Case report
Adams–Oliver syndrome in a newborn infant Zora Zakanj1, MD, PhD, Darko Bedek2, MD, Lena Kotrulja3, MD, PhD, and Suzana Ozanic Bulic3, MD, PhD
1 Departments of Gynecology and Obstetrics, University Hospital Center “Sestre Milosrdnice”, Zagreb, Croatia, 2 Department of Radiology, University Hospital Center “Sestre Milosrdnice”, Zagreb, Croatia, and 3Department of Dermatovenereology, University Hospital Center “Sestre Milosrdnice”, Zagreb, Croatia
Correspondence Zora Zakanj, MD, PHD Department of Gynecology and Obstetrics University Hospital Center “Sestre Milosrdnice” Vinogradska 29 Zagreb, 10000 Croatia E-mail: [email protected] Conflicts of interest: None. doi: 10.1111/ijd.12469
Adams–Oliver syndrome (AOS) is a rare, multisystem disease of unknown etiology, characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal limb anomalies.1 It was first described by Adams and Oliver,2 and 90 cases with various clinical presentations have since been published. The incidence is three in 10,000 births. No race or sex predilection is reported, unless the occurrence of AOS is associated with an X-linked syndrome.3 An autosomal dominant inheritance pattern is more common with variable genetic expression, although sporadic and autosomal recessive cases have been reported.4 The pathogenesis of AOS involves more than one mechanism, and includes genetic factors, teratogens (methimazole, carbimazole, misoprostol, valproic acid),5 compromise of the vasculature to the skin of the involved extremities during embryogenesis, and trauma.6 Anomalies of the skin and extremities are characteristic of AOS, but other associated anomalies of the central nervous system (CNS) and cardiovascular, gastrointestinal, and genitourinary systems have also been described.7 Frieden classified patients with aplasia cutis congenita into nine groups based on the number and location of lesions and the presence or absence of ª 2014 The International Society of Dermatology
associated malformations.8 Subjects with AOS are classified within group 2.8 Case report A male infant was delivered at full term from the second pregnancy of healthy, non-consanguineous parents. The infant’s birthweight was 2690 g (5–10 centiles); his birth length was 46 cm, and Apgar score was 10/10. The child showed signs of trauma during delivery, including hematoma of the nose base and birth swelling of the scalp. An irregular, partially stellate defect of the midline scalp skin, measuring 7 9 4 cm and covered with crusts, was apparent (Fig. 1). Sutures of the skull were widely spaced, indicating a defect of the parietal bones that was confirmed on x-ray. There was clinodactyly of both thumbs. The toes, predominantly on the right foot, were hypotrophic, thin, and tortuotic with aplasia and/or hypoplasia of the nails (Fig. 2). There were no other somatic or neurological anomalies present, and laboratory tests were normal. Radiographs showed no other bone defects. Ultrasonography of the heart, abdomen, hips, and brain was performed, as well as magnetic resonance imaging (MRI) of International Journal of Dermatology 2014
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Case report
Zakanj et al.
Adams–Oliver syndrome
Figure 1 Skin defect of the scalp in a newborn male infant with Adams–Oliver syndrome
Figure 3 Examination of the parents identified aplasia cutis congenita in the mother of the newborn infant with Adams– Oliver syndrome
tation. The infant’s mother was found to have normal feet and nails and hypoplastic tooth enamel. The child was discharged from hospital and is regularly followed by a team of specialists. Discussion
Figure 2 Clinical examination revealed hypoplastic toes, with nail aplasia and hypoplasia
the brain. Ultrasound and MRI of the brain showed partial agenesis of the corpus callosum. Brain angiography was normal. The child was seen by a cardiologist for an atrial septal defect type 2, with no hemodynamic significance. Screening also included an ophthalmological consultation, which revealed diffuse retinal bleeding, which resolved spontaneously after one week. The child was also examined by pediatric dermatologists. Wound dressings were applied to the scalp defect, which healed after a week with an atrophic scar leaving cicatricial alopecia. When the parents of the child were examined, the mother was found to have a defect of the parietal bones of the skull and scarring alopecia of the overlying skin, consistent with aplasia cutis congenita (Fig. 3). In the present case, aplasia cutis in the mother of the child suggests the autosomal dominant mode of inheritance. In a heterozygous child, disease is manifested because one (maternal) allele is sufficient to result in a clinical presenInternational Journal of Dermatology 2014
Among the over 3000 births that occur each year in the maternity ward of our hospital, children with congenital skin anomalies such as aplasia cutis congenita are rarely diagnosed.9 In the present case, the skin defect of the scalp was noted immediately after birth, as was the finding of hypoplastic toes with aplastic/hypoplastic nails, and a diagnosis of AOS was considered. Although there were no other somatic or neurological dysfunctions, and laboratory tests were normal, we followed the algorithm to exclude other organ anomalies. Most published cases of AOS describe aplasia of the midline scalp skin with defects of the distal extremities.10 Romani et al.11 reported an infant with AOS associated with intracranial calcifications with no evidence of intrauterine infection. Kalina et al. 12 described AOS with other anomalies of CNS (e.g. hypoplasia of midline structures of the CNS, hypoplasia of the pituitary gland, polymicrogyria) and concluded that children with AOS require endocrine follow-up. Our patient was diagnosed with partial agenesis of the corpus callosum and required close monitoring. Heart defects are reported in 13.4% of children with AOS.13 Our patient was diagnosed with an atrial septal defect type 2, which is a commonly reported heart defect in AOS. Approximately 20% of children with AOS have joined limb anomalies and other skeletal defects,14 and our patient had a large defect of the parietal bones. Retinal vascular lesions seen in our patient required an ª 2014 The International Society of Dermatology
Zakanj et al.
angiographic MRI scan of the brain. Given these present findings, we conclude that the majority of children with AOS can be successfully diagnosed in the neonatal period, especially in cases of life-threatening anomalies, when a multidisciplinary approach can promote normal growth and enhance the development of the affected child. References 1 Sankhyan N, Kaushal RK, Jaswal RS. Adams–Oliver syndrome: a case with complete expression. J Dermatol 2006; 22: 96–98. 2 Adams FH, Oliver CP. Hereditary deformities in man: due to arrested development. J Hered 1945; 36: 3–7. 3 Caksen H, Kartoglu S. Our experience with aplasia cutis congenita. J Dermatol 2002; 29: 376–379. 4 Pousti ZJ, Barlett RA. Adams–Oliver syndrome: genetics and associated anomalies of cutis aplasia. Plast Reconstr Surg 1997; 100: 1491–1496. 5 Izhar R, Ghani T. Aplasia cutis congenita and antithyroid drugs. J Pak Med Assoc 2002; 52: 526–528. 6 Snape KM, Ruddy D, Zenker M, et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009; 149: 1860–1881. 7 Mempel M, Abeck D, Lange I, et al. The wide spectrum of clinical expression in Adams–Oliver syndrome: a
ª 2014 The International Society of Dermatology
Adams–Oliver syndrome
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Case report
report of two cases. Br J Dermatol 1999; 140: 1157– 1160. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 1986; 14: 646–660. Starcevic M. Pozgaj Sepec M, Zah V. A case of extensive aplasia cutis congenita: a conservative approach. Pediatr Dermatol 2010; 27: 540–542. Bakry O, Attia A, Eman NS. Adams–Oliver syndrome. A case with isolated aplasia cutis congenita and skeletal defects. J Dermatol Case Rep 2012; 6: 25–28. Romani J, Puig L, Aznar G, et al. Adams–Oliver syndrome with unusual central nervous system alterations. Pediatr Dermatol 1998; 15: 48–50. Kalina MA, Kalina-Faska B, Paprocka J, et al. Do children with Adams–Oliver syndrome require endocrine follow-up? New information on the phenotype and management. Clin Genet 2010; 78: 227–235. Zapata HH, Sleten LJ, Pierpont ME. Congenital cardiac malformations in Adams–Oliver syndrome. Clin Genet 1995; 47: 80–84. Koiffmann CP, Wajntal A, Huyke BJ, et al. Congenital scalp skull defects with distal limb anomalies (Adams–Oliver syndrome – McKusick 10003): further suggestion of autosomal recessive inheritance. Am J Med Genet 1988; 29: 263–268.
International Journal of Dermatology 2014
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Adams–Oliver syndrome in a newborn infant Zora Zakanj1, MD, PhD, Darko Bedek2, MD, Lena Kotrulja3, MD, PhD, and Suzana Ozanic Bulic3, MD, PhD
1 Departments of Gynecology and Obstetrics, University Hospital Center “Sestre Milosrdnice”, Zagreb, Croatia, 2 Department of Radiology, University Hospital Center “Sestre Milosrdnice”, Zagreb, Croatia, and 3Department of Dermatovenereology, University Hospital Center “Sestre Milosrdnice”, Zagreb, Croatia
Correspondence Zora Zakanj, MD, PHD Department of Gynecology and Obstetrics University Hospital Center “Sestre Milosrdnice” Vinogradska 29 Zagreb, 10000 Croatia E-mail: [email protected] Conflicts of interest: None. doi: 10.1111/ijd.12469
Adams–Oliver syndrome (AOS) is a rare, multisystem disease of unknown etiology, characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal limb anomalies.1 It was first described by Adams and Oliver,2 and 90 cases with various clinical presentations have since been published. The incidence is three in 10,000 births. No race or sex predilection is reported, unless the occurrence of AOS is associated with an X-linked syndrome.3 An autosomal dominant inheritance pattern is more common with variable genetic expression, although sporadic and autosomal recessive cases have been reported.4 The pathogenesis of AOS involves more than one mechanism, and includes genetic factors, teratogens (methimazole, carbimazole, misoprostol, valproic acid),5 compromise of the vasculature to the skin of the involved extremities during embryogenesis, and trauma.6 Anomalies of the skin and extremities are characteristic of AOS, but other associated anomalies of the central nervous system (CNS) and cardiovascular, gastrointestinal, and genitourinary systems have also been described.7 Frieden classified patients with aplasia cutis congenita into nine groups based on the number and location of lesions and the presence or absence of ª 2014 The International Society of Dermatology
associated malformations.8 Subjects with AOS are classified within group 2.8 Case report A male infant was delivered at full term from the second pregnancy of healthy, non-consanguineous parents. The infant’s birthweight was 2690 g (5–10 centiles); his birth length was 46 cm, and Apgar score was 10/10. The child showed signs of trauma during delivery, including hematoma of the nose base and birth swelling of the scalp. An irregular, partially stellate defect of the midline scalp skin, measuring 7 9 4 cm and covered with crusts, was apparent (Fig. 1). Sutures of the skull were widely spaced, indicating a defect of the parietal bones that was confirmed on x-ray. There was clinodactyly of both thumbs. The toes, predominantly on the right foot, were hypotrophic, thin, and tortuotic with aplasia and/or hypoplasia of the nails (Fig. 2). There were no other somatic or neurological anomalies present, and laboratory tests were normal. Radiographs showed no other bone defects. Ultrasonography of the heart, abdomen, hips, and brain was performed, as well as magnetic resonance imaging (MRI) of International Journal of Dermatology 2014
1
2
Case report
Zakanj et al.
Adams–Oliver syndrome
Figure 1 Skin defect of the scalp in a newborn male infant with Adams–Oliver syndrome
Figure 3 Examination of the parents identified aplasia cutis congenita in the mother of the newborn infant with Adams– Oliver syndrome
tation. The infant’s mother was found to have normal feet and nails and hypoplastic tooth enamel. The child was discharged from hospital and is regularly followed by a team of specialists. Discussion
Figure 2 Clinical examination revealed hypoplastic toes, with nail aplasia and hypoplasia
the brain. Ultrasound and MRI of the brain showed partial agenesis of the corpus callosum. Brain angiography was normal. The child was seen by a cardiologist for an atrial septal defect type 2, with no hemodynamic significance. Screening also included an ophthalmological consultation, which revealed diffuse retinal bleeding, which resolved spontaneously after one week. The child was also examined by pediatric dermatologists. Wound dressings were applied to the scalp defect, which healed after a week with an atrophic scar leaving cicatricial alopecia. When the parents of the child were examined, the mother was found to have a defect of the parietal bones of the skull and scarring alopecia of the overlying skin, consistent with aplasia cutis congenita (Fig. 3). In the present case, aplasia cutis in the mother of the child suggests the autosomal dominant mode of inheritance. In a heterozygous child, disease is manifested because one (maternal) allele is sufficient to result in a clinical presenInternational Journal of Dermatology 2014
Among the over 3000 births that occur each year in the maternity ward of our hospital, children with congenital skin anomalies such as aplasia cutis congenita are rarely diagnosed.9 In the present case, the skin defect of the scalp was noted immediately after birth, as was the finding of hypoplastic toes with aplastic/hypoplastic nails, and a diagnosis of AOS was considered. Although there were no other somatic or neurological dysfunctions, and laboratory tests were normal, we followed the algorithm to exclude other organ anomalies. Most published cases of AOS describe aplasia of the midline scalp skin with defects of the distal extremities.10 Romani et al.11 reported an infant with AOS associated with intracranial calcifications with no evidence of intrauterine infection. Kalina et al. 12 described AOS with other anomalies of CNS (e.g. hypoplasia of midline structures of the CNS, hypoplasia of the pituitary gland, polymicrogyria) and concluded that children with AOS require endocrine follow-up. Our patient was diagnosed with partial agenesis of the corpus callosum and required close monitoring. Heart defects are reported in 13.4% of children with AOS.13 Our patient was diagnosed with an atrial septal defect type 2, which is a commonly reported heart defect in AOS. Approximately 20% of children with AOS have joined limb anomalies and other skeletal defects,14 and our patient had a large defect of the parietal bones. Retinal vascular lesions seen in our patient required an ª 2014 The International Society of Dermatology
Zakanj et al.
angiographic MRI scan of the brain. Given these present findings, we conclude that the majority of children with AOS can be successfully diagnosed in the neonatal period, especially in cases of life-threatening anomalies, when a multidisciplinary approach can promote normal growth and enhance the development of the affected child. References 1 Sankhyan N, Kaushal RK, Jaswal RS. Adams–Oliver syndrome: a case with complete expression. J Dermatol 2006; 22: 96–98. 2 Adams FH, Oliver CP. Hereditary deformities in man: due to arrested development. J Hered 1945; 36: 3–7. 3 Caksen H, Kartoglu S. Our experience with aplasia cutis congenita. J Dermatol 2002; 29: 376–379. 4 Pousti ZJ, Barlett RA. Adams–Oliver syndrome: genetics and associated anomalies of cutis aplasia. Plast Reconstr Surg 1997; 100: 1491–1496. 5 Izhar R, Ghani T. Aplasia cutis congenita and antithyroid drugs. J Pak Med Assoc 2002; 52: 526–528. 6 Snape KM, Ruddy D, Zenker M, et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009; 149: 1860–1881. 7 Mempel M, Abeck D, Lange I, et al. The wide spectrum of clinical expression in Adams–Oliver syndrome: a
ª 2014 The International Society of Dermatology
Adams–Oliver syndrome
8
9
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Case report
report of two cases. Br J Dermatol 1999; 140: 1157– 1160. Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol 1986; 14: 646–660. Starcevic M. Pozgaj Sepec M, Zah V. A case of extensive aplasia cutis congenita: a conservative approach. Pediatr Dermatol 2010; 27: 540–542. Bakry O, Attia A, Eman NS. Adams–Oliver syndrome. A case with isolated aplasia cutis congenita and skeletal defects. J Dermatol Case Rep 2012; 6: 25–28. Romani J, Puig L, Aznar G, et al. Adams–Oliver syndrome with unusual central nervous system alterations. Pediatr Dermatol 1998; 15: 48–50. Kalina MA, Kalina-Faska B, Paprocka J, et al. Do children with Adams–Oliver syndrome require endocrine follow-up? New information on the phenotype and management. Clin Genet 2010; 78: 227–235. Zapata HH, Sleten LJ, Pierpont ME. Congenital cardiac malformations in Adams–Oliver syndrome. Clin Genet 1995; 47: 80–84. Koiffmann CP, Wajntal A, Huyke BJ, et al. Congenital scalp skull defects with distal limb anomalies (Adams–Oliver syndrome – McKusick 10003): further suggestion of autosomal recessive inheritance. Am J Med Genet 1988; 29: 263–268.
International Journal of Dermatology 2014
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