http://informahealthcare.com/dre ISSN 0963-8288 print/ISSN 1464-5165 online Disabil Rehabil, 2014; 36(21): 1830–1833 ! 2014 Informa UK Ltd. DOI: 10.3109/09638288.2013.874504
CASE STUDY
Incontinentia pigmenti: a rare pathology with complex rehabilitative aspects Elisa Lioce1, Patrizia Milani1, Alessandro Bistolfi2, Patrizia Capacchione1, Alberto Nascimbeni3, and Giuseppe Massazza1,2 1
School of Physical Medicine and Rehabilitation, University of the Studies of Turin, Turin, Italy, 2Department of Orthopaedics, Traumatology and Rehabilitation, AO Citta` della Salute e della Scienza, CTO Hospital, Turin, Italy, and 3Department of Physical Medicine and Rehabilitation, ASL TO 5, Moncalieri, Turin, Italy Abstract
Keywords
Purpose: Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is a rare X-linked dominant genetic disorder with multisystem involvement. To our knowledge, there are no previous reports about rehabilitation in IP adult with intact cognitive development. We report a 20-year-old lady with IP managed and followed into adulthood. Method: Patient management and rehabilitation programs from birth to the last follow-up. Results: There was normal cognitive development despite magnetic resonance imaging (MRI) evidence of white matter, corpus callosum and brainstem hypoplasia. Extensor spasticity was present on both lower limbs for which she underwent rehabilitation from the age of one. Botulinum toxin injections were performed and when she was 15 years old she underwent functional surgery. Conclusion: The absence of mental retardation in our patient enabled us to carry out an active rehabilitation program and provide her with maximum independence in locomotion and in activities of daily living.
Adult, cognitive development, functional surgery, incontinentia pigmenti, multisystem involvement History Received 28 February 2013 Revised 1 December 2013 Accepted 9 December 2013 Published online 3 January 2014
ä Implications for Rehabiliation
Incontinentia pigmenti (Bloch-Sulzberger syndrome). Incontinentia pigmenti is a rare X-linked dominant genetic disorder with multisystemic involvement. Skin lesions, neurological impairments, motormental retardation, skeletal congenital defects and ophthalmologic involvement are IP most frequent manifestations. Due to the complex multisystem involvement resulting in severe long-term disability, patients with IP require a multidisciplinary team approach for rehabilitation. In IP patients, rehabilitation interventions should always take into consideration the individual phenotype expression, child’s physical development and personal needs.
Introduction Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare X-linked dominant genetic disorder [1]. It is a neurocutaneous disease with multisystem involvement. The gene responsible for this condition is IKBKG (inhibitor of kappa B kinase gamma, previously known as NEMO), localized on the X-chromosome, locus Xq28. IKBKG gene product activates transcription factor NF-kB (nuclear factor-kappa B) [2]. NF-kB is involved in inflammatory, immunogenic and apoptotic processes.
Address for correspondence: Elisa Lioce, School of Physical Medicine and Rehabilitation, University of the Studies of Turin, c/o AO CTO, Segreteria Clinica Ortopedica, via Zuretti 29, 10126 Torino, Italy. Tel: 0039-339-7735094. Fax: 0039-011-6933760. E-mail: [email protected]
IP is usually lethal in males in utero, whereas in females due to the lionization phenomenon, disease expression is variable [3]. Skin lesions are diagnostic and are usually present at birth as erythema, vesicles and hyperpigmentation, followed by hypopigmentation and cutaneous atrophy. In 40–50% of the cases, the dermatological lesions are associated with neurological impairment such as seizures, motor delay and mental retardation, paresis, spasticity, cerebellar ataxia and microcephaly [4]. The pathogenesis of the lesions of Central Nervous System (CNS) was previously attributed to microvascular hemorrhagic infarcts while the pathogenesis of skin lesions was attributed to cellular apoptosis [5]. Current findings show that CNS lesions may result from the same pathogenesis as the skin lesions, due to the common ectodermal origin. Apoptosis of IKBKG mutated cells is therefore the main hypothesis for the pathogenesis of IP [6,7]. Neuroimaging studies have demonstrated cortical and white matter necrosis with periventricular cystic lesions, corpus
DOI: 10.3109/09638288.2013.874504
callosum hypoplasia, ischemic strokes, cerebral atrophy and neuronal heterotopia [8]. Skeletal congenital defects may affect both the spine and limbs. Kyphoscoliosis, hemivertebrae, extra ribs, syndactyly and short limbs have been reported. Ophthalmologic abnormalities such as retinal vasculopathy, anophthalmia, optic atrophy, strabismus and cataracts have also been reported. Dental and altered immune responsiveness can also be present whereas involvement of internal organs is rare. Due to the complex multisystem involvement resulting in severe long-term disability, patients with IP require a multidisciplinary team approach for rehabilitation [9]. In fact, multidisciplinary rehabilitation is fundamental in conditions with physical, sensory, perceptive and cognitive deficits caused by prenatal, natal or postnatal causes [10]. To our knowledge, there are no previous reports about rehabilitation in IP adult with intact cognitive development. We report a 20-year-old lady with IP managed and followed into adulthood.
Case report We present a case of a 20-year-old lady, with IP confirmed by genetic testing soon after birth. Her mother was also affected by the condition but had no clinical symptoms. Vesicular rash was present at birth and she had focal seizures during the second week of life. During the first year, brain MRI demonstrated white matter, corpus callosum and brainstem hypoplasia associated with white matter multiple periventricular focal lesions. Lateral ventricular enlargement and light microgyria were also demonstrated (Figure 1). The cognitive development was normal, despite no change in imaging studies at 8 years. Skeletal radiographic exams showed C2–C3 synostosis, S1 schisis, mild scoliosis, lumbar hyperlordosis and bilateral hip dysplasia. Ophthalmologic evaluation showed hypermetropia and astigmatism.
Figure 1. Brain MRI showing white matter, corpus callosum and brainstem hypoplasia associated with white matter multiple periventricular focal lesions, hyperintense in T2 weighted images.
Incontinentia pigmenti
1831
Our patient presented an unusual pattern of motor impairment, characterized by severe diplegia and right upper limb paresis. There was extensor spasticity in the lower limbs and flexor spasticity in the right upper limb with major functional limitation. The feet were in valgus-pronation (Figure 2). Rehabilitation started from the age of 1. In the initial years, the goals were to enable normal movement, correct positioning and functional improvement. Our patient started walking indoors with a posterior walker at 5 years. In successive years, the goals were to improve postural control, walking with aids indoors, use of electric wheelchair for outdoors and gain independence with Activities of Daily Living (ADL). Gait analysis was carried out at regular intervals from the age of 7 and demonstrated altered muscular activation. Botulinum toxin (BTX-A) was administered first at the age of 8 years, to control flexor spasticity in both ankles and the right elbow, and repeated at the age of 12 and 14 years. Solid ankle foot orthosis (AFO) was prescribed at the age of 8 years. Care was taken to accommodate the skin lesions and to reduce pain in the legs. From the age of 10, patient reported neck and back pain mostly during prolonged sitting. This was treated with relaxation massage and physical therapies. Our patient had progressive functional limitation mostly due to spasticity, contractures and joint deformities. At the age of 15 years, she underwent functional surgery involving bilateral releases of the rectus femori, gastrocnemi, big toe extensors and abductors; osteotomies of the medial calcaneaum, first cuneiform and hallux valgus. BTX-A was injected to the flexors of the right elbow post operatively. Following surgery the rehabilitation protocol as described in Appendix 1 was carried out. At the end of rehabilitation, her standing balance improved and repeated gait analysis demonstrated increase in stride length and velocity. At the last follow-up in September 2012, our patient was able to walk indoors with a tripod stick and use an electric wheelchair for outdoors. She was studying at the university, enjoyed adapted
Figure 2. Valgus-pronated feet and dermatological lesions on the left leg.
1832
E. Lioce et al.
Disabil Rehabil, 2014; 36(21): 1830–1833
Table 1. Patient management and follow-up. Period
Management
Aim Evaluation of mental development Growth evaluation and orthotic intervention as required Movement facilitation, postural control, walking with aids
7 years onwards 8 years onwards 8 years onwards
Neuropsychological assessment Periodic radiological imaging Physiotherapy based on Bobath Neuro Developmental Treatment (NDT) Periodic gait analysis Periodic BTX-A injections Periodic multidisciplinary team assessment
10 years onwards
Massage and physical therapy
12 months onwards 12 months onwards 14 months onwards
Study of gait and altered muscular activation Treatment of spasticity Therapeutic choices for developmental changes (functional surgery, orthosis prescriptions) Pain management
Declaration of interest
Table 2. Rehabilitation results in last 10 years. Year 2000
Year 2010
Intellectual quotient (IQ) Spasticity assessment by Modified Ashworth Scale (MAS) Gait analysis
99 3
100 2
Gross motor function measurement-88 (GMFM-88)
42
" stride length and velocity (with aids) 48
The authors did not receive any funding or contribution for this work and they report no conflicts of interest. This case report followed the rules of Ethics of the World Medical Association.
References
skiing and wheelchair dancing. Patient management and followup is listed in Table 1. The effects of the rehabilitation were evaluated before and after the interventions with regards to: (1) Intellectual Quotient (IQ) [11]; (2) Spasticity evaluation with the Modified Ashworth Scale (MAS) [12]; (3) Gait analysis (using triaxial electrogoniometers, dynamic electromyography, a force platform and a video camera); (4) Gross motor function measurement-88 (GMFM-88) [13]. Table 2 shows the results in the last 10 years.
Discussion The characteristic feature of our patient is the absence of mental retardation despite significant CNS involvement. In literature, CNS dysfunction is reported in 30% of IP patients. The most common neurological impairments reported are seizures in 42%, motor delay in 25% and mental retardation in 21%. The paresis, spasticity, seizures, mental retardation, congenital skeletal deformities and visual defects with possible blindness are reported as important factors leading to chronic disability [14,15]. IKBKG mutations are confirmed only in a small percentage of patients with CNS involvement and the most frequent anomaly is exon 4–10 deletion. Recent genetic studies show that the correlation between the types of IKBKG mutations and IP phenotype expression is still controversial. Therefore, the possibility of other gene mutations cannot be excluded [7,16]. The absence of mental retardation was the key factor which enabled our patient to actively participate in a rehabilitation program, and achieve maximal independence in mobility and ADLs. Rehabilitation interventions should take into account the multisystem involvement, as well as developmental changes in a patient with IP. In particular, the dermatological lesions can be problematic, compromising the use of orthoses. The congenital spinal malformations may result in postural issues and pain in young adults, mainly during the growing years. In IP patients, rehabilitation interventions like physiotherapy, gait analysis, BTX-A treatment, functional surgery, orthosis should always consider the individual phenotype expression, child’s physical development and personal needs.
1. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53–9. 2. Minic´ S, Trpinac D, Obradovic´ M. Incontinentia pigmenti diagnostic criteria update. Clin Genet 2013 26. [Epub ahead of print]. DOI: 10.1111/cge.12223. 3. Hadj-Rabia S, Rimella A, Smahi A, et al. Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-kB essential modulator gene mutations. J Am Acad Dermatol 2011;64: 508–15. 4. Fiorilo L, Sinclair ML, O’Byrne ML, Krol AL. Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr Neurol 2003; 29:66–8. 5. Hennel SJ, Ekert PG, Volpe JJ, Inder TE. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 2003;29:148–50. 6. Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47:169–87. 7. Minic´ S, Trpinac D, Obradovic´ M. Systematic review of central nervous system anomalies in incontinentia pigmenti. Orphanet J Rare Dis 2013;8:25. doi:10.1186/1750-1172-8-25. 8. Mirowsky GW, Caldemeyer KS. Incontinentia pigmenti. J Am Acad Dermatol 2000;43:517–18. 9. Vicente-Villa A, Lamas JV, Pascual AM, et al. Incontinentia pigmenti: a report of ten cases. Eur J Pediatr 2001;160:64–5. 10. Girolami GL, Campbell SK. The efficacy of a neurodevelopmental treatment to improve motor control in infants born prematurely, is known: early physiotherapy can be effective because of brain plasticity and quick learning skills, whereas a long-term physiotherapy program and a follow-up can be useful because of the big developmental changes that occur in the growth years. Pediatric Phys Thera 1994;6:175–84. 11. Enkelaar L, Ketelaar M, Gorter JW. Association between motor and mental functioning in toddlers with cerebral palsy. Dev Neurorehabil 2008;11:276–82. 12. Bohannon RW, Smith MB. Interrater reliability of a modified Ashworth scale of muscle spasticity. Phys Ther 1987;76: 206–7. 13. Russell DJ, Avery LM, Rosenbraum PL, et al. Improved scaling of the gross motor function measure for children with cerebral palst: evidence of reliability and validity. Phys Ther 2000;80:873–85. 14. Ozqun KK, Akmer M, Mintaze KG. The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele. BMJ Case Rep 2010;10:2814. doi: 10.1136/ bcr.03.2010.2814. 15. Meuwissen ME, Mancini GM. Neurological findings in incontinentia pigmenti; a review. Eur J Med Genet 2012;55: 323–31. 16. Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet 2001;10:2171–9.
DOI: 10.3109/09638288.2013.874504
Appendix 1 Rehabilitation protocol after functional surgery Patient was in casts for 6 weeks – non-weight bearing for 4 weeks followed by gradual weight bearing. First week: Sitting allowed with relaxed arms Leg elevation in lying position Care of the casts Passive mobilization of knees from first day after surgery as tolerated Progressive isometric strengthening exercises of quadriceps, gluteus and abdominals Mobilization of other joints
Second and third week: Muscle stretches of both lower limbs Assisted knee mobilization Isometric and isotonic strengthening exercises for quadriceps and gluteus Progressive mobilization of upper limbs and other joints Straightening exercises
From fourth week: Standing with weight bearing casts (after orthopedic consultation) Load transfer and pelvis stabilization exercises Hip extension exercises Gait training with aids
After removal of cast: Overnight leg supports for further 2 weeks AFO during daytime Slow passive mobilization of ankle and feet (flex/ext 20 ) Scar massage Hydrotherapy Active mobilization against low resistance Proprioceptive exercises for ankle, both with and without weight bearing Gradual weaning from AFO Gradual gait training without aids
Incontinentia pigmenti
1833
Copyright of Disability & Rehabilitation is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
CASE STUDY
Incontinentia pigmenti: a rare pathology with complex rehabilitative aspects Elisa Lioce1, Patrizia Milani1, Alessandro Bistolfi2, Patrizia Capacchione1, Alberto Nascimbeni3, and Giuseppe Massazza1,2 1
School of Physical Medicine and Rehabilitation, University of the Studies of Turin, Turin, Italy, 2Department of Orthopaedics, Traumatology and Rehabilitation, AO Citta` della Salute e della Scienza, CTO Hospital, Turin, Italy, and 3Department of Physical Medicine and Rehabilitation, ASL TO 5, Moncalieri, Turin, Italy Abstract
Keywords
Purpose: Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is a rare X-linked dominant genetic disorder with multisystem involvement. To our knowledge, there are no previous reports about rehabilitation in IP adult with intact cognitive development. We report a 20-year-old lady with IP managed and followed into adulthood. Method: Patient management and rehabilitation programs from birth to the last follow-up. Results: There was normal cognitive development despite magnetic resonance imaging (MRI) evidence of white matter, corpus callosum and brainstem hypoplasia. Extensor spasticity was present on both lower limbs for which she underwent rehabilitation from the age of one. Botulinum toxin injections were performed and when she was 15 years old she underwent functional surgery. Conclusion: The absence of mental retardation in our patient enabled us to carry out an active rehabilitation program and provide her with maximum independence in locomotion and in activities of daily living.
Adult, cognitive development, functional surgery, incontinentia pigmenti, multisystem involvement History Received 28 February 2013 Revised 1 December 2013 Accepted 9 December 2013 Published online 3 January 2014
ä Implications for Rehabiliation
Incontinentia pigmenti (Bloch-Sulzberger syndrome). Incontinentia pigmenti is a rare X-linked dominant genetic disorder with multisystemic involvement. Skin lesions, neurological impairments, motormental retardation, skeletal congenital defects and ophthalmologic involvement are IP most frequent manifestations. Due to the complex multisystem involvement resulting in severe long-term disability, patients with IP require a multidisciplinary team approach for rehabilitation. In IP patients, rehabilitation interventions should always take into consideration the individual phenotype expression, child’s physical development and personal needs.
Introduction Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare X-linked dominant genetic disorder [1]. It is a neurocutaneous disease with multisystem involvement. The gene responsible for this condition is IKBKG (inhibitor of kappa B kinase gamma, previously known as NEMO), localized on the X-chromosome, locus Xq28. IKBKG gene product activates transcription factor NF-kB (nuclear factor-kappa B) [2]. NF-kB is involved in inflammatory, immunogenic and apoptotic processes.
Address for correspondence: Elisa Lioce, School of Physical Medicine and Rehabilitation, University of the Studies of Turin, c/o AO CTO, Segreteria Clinica Ortopedica, via Zuretti 29, 10126 Torino, Italy. Tel: 0039-339-7735094. Fax: 0039-011-6933760. E-mail: [email protected]
IP is usually lethal in males in utero, whereas in females due to the lionization phenomenon, disease expression is variable [3]. Skin lesions are diagnostic and are usually present at birth as erythema, vesicles and hyperpigmentation, followed by hypopigmentation and cutaneous atrophy. In 40–50% of the cases, the dermatological lesions are associated with neurological impairment such as seizures, motor delay and mental retardation, paresis, spasticity, cerebellar ataxia and microcephaly [4]. The pathogenesis of the lesions of Central Nervous System (CNS) was previously attributed to microvascular hemorrhagic infarcts while the pathogenesis of skin lesions was attributed to cellular apoptosis [5]. Current findings show that CNS lesions may result from the same pathogenesis as the skin lesions, due to the common ectodermal origin. Apoptosis of IKBKG mutated cells is therefore the main hypothesis for the pathogenesis of IP [6,7]. Neuroimaging studies have demonstrated cortical and white matter necrosis with periventricular cystic lesions, corpus
DOI: 10.3109/09638288.2013.874504
callosum hypoplasia, ischemic strokes, cerebral atrophy and neuronal heterotopia [8]. Skeletal congenital defects may affect both the spine and limbs. Kyphoscoliosis, hemivertebrae, extra ribs, syndactyly and short limbs have been reported. Ophthalmologic abnormalities such as retinal vasculopathy, anophthalmia, optic atrophy, strabismus and cataracts have also been reported. Dental and altered immune responsiveness can also be present whereas involvement of internal organs is rare. Due to the complex multisystem involvement resulting in severe long-term disability, patients with IP require a multidisciplinary team approach for rehabilitation [9]. In fact, multidisciplinary rehabilitation is fundamental in conditions with physical, sensory, perceptive and cognitive deficits caused by prenatal, natal or postnatal causes [10]. To our knowledge, there are no previous reports about rehabilitation in IP adult with intact cognitive development. We report a 20-year-old lady with IP managed and followed into adulthood.
Case report We present a case of a 20-year-old lady, with IP confirmed by genetic testing soon after birth. Her mother was also affected by the condition but had no clinical symptoms. Vesicular rash was present at birth and she had focal seizures during the second week of life. During the first year, brain MRI demonstrated white matter, corpus callosum and brainstem hypoplasia associated with white matter multiple periventricular focal lesions. Lateral ventricular enlargement and light microgyria were also demonstrated (Figure 1). The cognitive development was normal, despite no change in imaging studies at 8 years. Skeletal radiographic exams showed C2–C3 synostosis, S1 schisis, mild scoliosis, lumbar hyperlordosis and bilateral hip dysplasia. Ophthalmologic evaluation showed hypermetropia and astigmatism.
Figure 1. Brain MRI showing white matter, corpus callosum and brainstem hypoplasia associated with white matter multiple periventricular focal lesions, hyperintense in T2 weighted images.
Incontinentia pigmenti
1831
Our patient presented an unusual pattern of motor impairment, characterized by severe diplegia and right upper limb paresis. There was extensor spasticity in the lower limbs and flexor spasticity in the right upper limb with major functional limitation. The feet were in valgus-pronation (Figure 2). Rehabilitation started from the age of 1. In the initial years, the goals were to enable normal movement, correct positioning and functional improvement. Our patient started walking indoors with a posterior walker at 5 years. In successive years, the goals were to improve postural control, walking with aids indoors, use of electric wheelchair for outdoors and gain independence with Activities of Daily Living (ADL). Gait analysis was carried out at regular intervals from the age of 7 and demonstrated altered muscular activation. Botulinum toxin (BTX-A) was administered first at the age of 8 years, to control flexor spasticity in both ankles and the right elbow, and repeated at the age of 12 and 14 years. Solid ankle foot orthosis (AFO) was prescribed at the age of 8 years. Care was taken to accommodate the skin lesions and to reduce pain in the legs. From the age of 10, patient reported neck and back pain mostly during prolonged sitting. This was treated with relaxation massage and physical therapies. Our patient had progressive functional limitation mostly due to spasticity, contractures and joint deformities. At the age of 15 years, she underwent functional surgery involving bilateral releases of the rectus femori, gastrocnemi, big toe extensors and abductors; osteotomies of the medial calcaneaum, first cuneiform and hallux valgus. BTX-A was injected to the flexors of the right elbow post operatively. Following surgery the rehabilitation protocol as described in Appendix 1 was carried out. At the end of rehabilitation, her standing balance improved and repeated gait analysis demonstrated increase in stride length and velocity. At the last follow-up in September 2012, our patient was able to walk indoors with a tripod stick and use an electric wheelchair for outdoors. She was studying at the university, enjoyed adapted
Figure 2. Valgus-pronated feet and dermatological lesions on the left leg.
1832
E. Lioce et al.
Disabil Rehabil, 2014; 36(21): 1830–1833
Table 1. Patient management and follow-up. Period
Management
Aim Evaluation of mental development Growth evaluation and orthotic intervention as required Movement facilitation, postural control, walking with aids
7 years onwards 8 years onwards 8 years onwards
Neuropsychological assessment Periodic radiological imaging Physiotherapy based on Bobath Neuro Developmental Treatment (NDT) Periodic gait analysis Periodic BTX-A injections Periodic multidisciplinary team assessment
10 years onwards
Massage and physical therapy
12 months onwards 12 months onwards 14 months onwards
Study of gait and altered muscular activation Treatment of spasticity Therapeutic choices for developmental changes (functional surgery, orthosis prescriptions) Pain management
Declaration of interest
Table 2. Rehabilitation results in last 10 years. Year 2000
Year 2010
Intellectual quotient (IQ) Spasticity assessment by Modified Ashworth Scale (MAS) Gait analysis
99 3
100 2
Gross motor function measurement-88 (GMFM-88)
42
" stride length and velocity (with aids) 48
The authors did not receive any funding or contribution for this work and they report no conflicts of interest. This case report followed the rules of Ethics of the World Medical Association.
References
skiing and wheelchair dancing. Patient management and followup is listed in Table 1. The effects of the rehabilitation were evaluated before and after the interventions with regards to: (1) Intellectual Quotient (IQ) [11]; (2) Spasticity evaluation with the Modified Ashworth Scale (MAS) [12]; (3) Gait analysis (using triaxial electrogoniometers, dynamic electromyography, a force platform and a video camera); (4) Gross motor function measurement-88 (GMFM-88) [13]. Table 2 shows the results in the last 10 years.
Discussion The characteristic feature of our patient is the absence of mental retardation despite significant CNS involvement. In literature, CNS dysfunction is reported in 30% of IP patients. The most common neurological impairments reported are seizures in 42%, motor delay in 25% and mental retardation in 21%. The paresis, spasticity, seizures, mental retardation, congenital skeletal deformities and visual defects with possible blindness are reported as important factors leading to chronic disability [14,15]. IKBKG mutations are confirmed only in a small percentage of patients with CNS involvement and the most frequent anomaly is exon 4–10 deletion. Recent genetic studies show that the correlation between the types of IKBKG mutations and IP phenotype expression is still controversial. Therefore, the possibility of other gene mutations cannot be excluded [7,16]. The absence of mental retardation was the key factor which enabled our patient to actively participate in a rehabilitation program, and achieve maximal independence in mobility and ADLs. Rehabilitation interventions should take into account the multisystem involvement, as well as developmental changes in a patient with IP. In particular, the dermatological lesions can be problematic, compromising the use of orthoses. The congenital spinal malformations may result in postural issues and pain in young adults, mainly during the growing years. In IP patients, rehabilitation interventions like physiotherapy, gait analysis, BTX-A treatment, functional surgery, orthosis should always consider the individual phenotype expression, child’s physical development and personal needs.
1. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53–9. 2. Minic´ S, Trpinac D, Obradovic´ M. Incontinentia pigmenti diagnostic criteria update. Clin Genet 2013 26. [Epub ahead of print]. DOI: 10.1111/cge.12223. 3. Hadj-Rabia S, Rimella A, Smahi A, et al. Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-kB essential modulator gene mutations. J Am Acad Dermatol 2011;64: 508–15. 4. Fiorilo L, Sinclair ML, O’Byrne ML, Krol AL. Bilateral cerebrovascular accidents in incontinentia pigmenti. Pediatr Neurol 2003; 29:66–8. 5. Hennel SJ, Ekert PG, Volpe JJ, Inder TE. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 2003;29:148–50. 6. Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47:169–87. 7. Minic´ S, Trpinac D, Obradovic´ M. Systematic review of central nervous system anomalies in incontinentia pigmenti. Orphanet J Rare Dis 2013;8:25. doi:10.1186/1750-1172-8-25. 8. Mirowsky GW, Caldemeyer KS. Incontinentia pigmenti. J Am Acad Dermatol 2000;43:517–18. 9. Vicente-Villa A, Lamas JV, Pascual AM, et al. Incontinentia pigmenti: a report of ten cases. Eur J Pediatr 2001;160:64–5. 10. Girolami GL, Campbell SK. The efficacy of a neurodevelopmental treatment to improve motor control in infants born prematurely, is known: early physiotherapy can be effective because of brain plasticity and quick learning skills, whereas a long-term physiotherapy program and a follow-up can be useful because of the big developmental changes that occur in the growth years. Pediatric Phys Thera 1994;6:175–84. 11. Enkelaar L, Ketelaar M, Gorter JW. Association between motor and mental functioning in toddlers with cerebral palsy. Dev Neurorehabil 2008;11:276–82. 12. Bohannon RW, Smith MB. Interrater reliability of a modified Ashworth scale of muscle spasticity. Phys Ther 1987;76: 206–7. 13. Russell DJ, Avery LM, Rosenbraum PL, et al. Improved scaling of the gross motor function measure for children with cerebral palst: evidence of reliability and validity. Phys Ther 2000;80:873–85. 14. Ozqun KK, Akmer M, Mintaze KG. The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele. BMJ Case Rep 2010;10:2814. doi: 10.1136/ bcr.03.2010.2814. 15. Meuwissen ME, Mancini GM. Neurological findings in incontinentia pigmenti; a review. Eur J Med Genet 2012;55: 323–31. 16. Aradhya S, Woffendin H, Jakins T, et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet 2001;10:2171–9.
DOI: 10.3109/09638288.2013.874504
Appendix 1 Rehabilitation protocol after functional surgery Patient was in casts for 6 weeks – non-weight bearing for 4 weeks followed by gradual weight bearing. First week: Sitting allowed with relaxed arms Leg elevation in lying position Care of the casts Passive mobilization of knees from first day after surgery as tolerated Progressive isometric strengthening exercises of quadriceps, gluteus and abdominals Mobilization of other joints
Second and third week: Muscle stretches of both lower limbs Assisted knee mobilization Isometric and isotonic strengthening exercises for quadriceps and gluteus Progressive mobilization of upper limbs and other joints Straightening exercises
From fourth week: Standing with weight bearing casts (after orthopedic consultation) Load transfer and pelvis stabilization exercises Hip extension exercises Gait training with aids
After removal of cast: Overnight leg supports for further 2 weeks AFO during daytime Slow passive mobilization of ankle and feet (flex/ext 20 ) Scar massage Hydrotherapy Active mobilization against low resistance Proprioceptive exercises for ankle, both with and without weight bearing Gradual weaning from AFO Gradual gait training without aids
Incontinentia pigmenti
1833
Copyright of Disability & Rehabilitation is the property of Taylor & Francis Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
