Journal of Cosmetic and Laser Therapy, 2014; 16: 293–295
ORIGINAL ARTICLE
Repeated salicylic acid peels for the treatment of hyperplastic sebaceous glands in hypohidrotic ectodermal dysplasia
J Cosmet Laser Ther Downloaded from informahealthcare.com by UMEA University Library on 04/03/15 For personal use only.
THEMIS SGONTZOU, KALLIOPI ARMYRA, ANARGYROS KOURIS, CHARALAMPOS BOKOTAS & GEORGE KONTOCHRISTOPOULOS Department of Dermatology and Venereology, Andreas Sygros Hospital, Athens, Greece Abstract Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) is the most common type of ectodermal dysplasia. Hypertrophic sebaceous glands (HSGs) are rarely present but they cause an aesthetic problem. We report a case of a patient suffering from hypohidrotic ectodermal dysplasia, treated with salicylic acid peels for the hyperplastic sebaceous glands. Key Words: cosmeceuticals, topical agents
Introduction Ectodermal dysplasias comprise a large, heterogenous group of hereditary multisystemic disorders defined by primary defects in the development of two or more tissues derived from the embryonic ectoderm. The most common type is the X-linked recessive hypohidrotic or anhidrotic ectodermal dysplasia (ChristSiemens-Touraine syndrome). This rare disorder typically affects hair, teeth, nails, and eccrine glands (sebaceous and sweat glands), in combination with abnormalities of ectodermal originated tissues, such as the central nervous system, melanocytes, ears, eyes, and the mucous membranes of the mouth and nose (1). The most common mutation involves the ectodysplasin A (EDA) gene of the X chromosome in the Xq12–13 position. In autosomal dominant form, the mutations involve the gene that encodes the receptor for ectodysplasin (EDAR). The associated genes with autosomal recessive form are the EDAR gene and the gene encoding an adaptor factor of the EDA/EDAR signaling system (EDARADD) (2,3). The prevalence of ectodermal dysplasia is estimated at 1–7 cases per 100,000 births in general population (4,5).
Case report A 22-year-old male patient was referred to our department complaining of numerous flesh-colored
papules in confluent plaques symmetrically distributed on his cheeks (Figure 1). The lesions were his main concern, because they were causing him an esthetic problem, provoked emotional impairment, and decreased his quality of life. The patient had been diagnosed during the neonatal period with X-linked hypohidrotic ectodermal dysplasia. His personal medical history indicated no sweating, difficulties in heat regulation, hypodontia, frequent rhinitis and pneumonias up to the age of 15, and recurrent otitis media until the age of 5. He had also undergone surgery in early childhood for aortic stenosis. His family history revealed that his mother had also suffered from decreased sweating and hypodontia. Clinical examination revealed dysmorphic facies with frontal bossing, sunken cheeks, saddle nose, thick everted lips, wrinkled, pigmented periorificial skin and large, low-set ears. He had sparse, thin, fair, brittle scalp hair with alopecia, absence of twothird of the lateral eyebrows, body hair in the axilla and on the chest only. His dental features did not include hypodontia as he had undergone orthodontic procedures one year earlier. The skin was dry – notably particularly on the elbows and knees – hypopigmented, and sweating was absent. His voice was hoarse and had average intelligence. Multiple flesh-colored papules confluent in plaques were mainly observed on the cheeks. Similar diffuse
Correspondence: Kalliopi Armyra, Department of Dermatology and Venereology, Andreas Sygros Hospital, Athens, Greece. E-mail: [email protected] (Received 17 December 2013 ; accepted 25 May 2014 ) ISSN 1476-4172 print/ISSN 1476-4180 online © 2014 Informa UK, Ltd. DOI: 10.3109/14764172.2014.948454
J Cosmet Laser Ther Downloaded from informahealthcare.com by UMEA University Library on 04/03/15 For personal use only.
294
T. Sgontzou et al.
Figure 1. Flesh-colored papules confluent in plaques symmetically distributed in cheeks.
Figure 3. After treatment with chemical peels.
Discussion papules were also present on the occipital and chest. A punch biopsy obtained from the papules on the right upper cheek disclosed many large lobules of the sebaceous glands surrounding velus hair follicles. No eccrine sweat glands were found. The trichogram demonstrated brittle and twisted hair shafts (pili torti). The starch–iodine test in the axilla and palms was negative and, as such, we can presume that there was an absence of eccrine sweat glands. Initially, we applied topical tretinoin cream 0.05% on the flesh-colored papules of the cheek once a day for 20 days with only a slight improvement. Subsequently, we performed six sessions of 30% salicylic acid superficial chemical peels; each every 15 days. The improvement was remarkable. The few remaining papules were removed with one session of electrosurgery. After 6 months follow-up, the results remained satisfactory and no recurrence was observed. The patient declared that he was satisfied by his appearance, his self-esteem was boosted and his quality of life was improved (Figures 2 and 3).
Figure 2. Before treatment with chemical peels.
There are a number of studies that describe papular lesions on the face of patients with hypohidrotic ectodermal dysplasia, but they are neither confluent plaques nor constitute an esthetic problem, such as observed in our case. The clinical diagnosis of the papules was sebaceous hyperplasia (6–16). Histologic examination of the papules revealed “large sebaceous glands surrounding vellus hair follicles” (6,7). In our case, the histopathological findings were in accordance with the biopsies mentioned above. Salicylic acid is a lipophilic beta-hydroxy acid possessing keratolytic, comedolytic, anti-inflammatory, and antibacterial properties. At concentrations between 20% and 30% it is used for superficial chemical peels in the treatment of acne vulgaris, hyperpigmentation and mild photodamage. It removes intercellular lipids that are covalently linked to the cornified envelope surrounding cornified epithelioid cells (17). Sebaceous glands are composed of two types of cells: the lipid-producing cells (sebocytes) and the stratified squamous cells lining the ductal epithelium. The secretion mechanism of sebaceous glands is holocrine via rupture of individual sebocytes releasing the sebum. Sebum is the excretory product of the sebaceous glands. Due to its lipophilic nature, salicylic acid penetrates the sebaceous material in the follicles and thus it is able to induce exfoliation within the infundibulum. It also disrupts the intercorneocyte cohesion and leads to desquamation. The above actions of salicylic acid may be responsible for the decrease in the activity and the size of sebaceous glands. It can been used as a peeling agent with satisfactory results in the treatment of hyperplastic sebaceous glands. The previous studies have not suggested any therapy for the papular lesions, probably because they were not strongly apparent and were not causing an esthetic problem to the patients. We report an alternative therapeutic approach with salicylic acid peels to hyperplastic sebaceous glands in a patient suffering from ectodermal dysplasia with notable esthetic improvement.
Hyperplastic sebaceous glands in hypohidrotic ectodermal dysplasia Declaration of interest: The authors report no declarations of interest. The authors alone are responsible for the content and writing of the paper.
J Cosmet Laser Ther Downloaded from informahealthcare.com by UMEA University Library on 04/03/15 For personal use only.
References 1. Irvine AD, Mellerio JE. Genetics and genodermatoses. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s textbook of dermatology, Vol 1. 8th ed. Oxford: Wiley-Blackwell; 2010. 15:27–28. 2. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. 1999;22: 366–369. 3. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001;414:913–916. 4. Clarke A. Hypohidrotic ectodermal dysplasia. J Med Gen. 1987;24:659–663. 5. Kerr CB, Wells RS, Cooper KE. Gene effect in carriers of anhidrotic ectodermal dysplasia. J Med Gen 1966;3:169–176. 6. Piletta PA, Calza AM, Masouyé I, Harms M, Saurat JH. Hypohidrotic. Ectodermal Dysplasia with recurrent otitis and sebaceous gland hypertrophy of the face. Dermatol. 1995; 191:355–358.
Notice of Correction Changes have been made to this article since its original online publication date of 13 August 2014.
295
7. Katz SI, Penneys NS. Sebaceous glands papules in anhidrotic ectodermal dysplasia. Arch Derm. 1971;103:507–509. 8. De Silva PCC. Hereditary ectodermal dysplasia of anhidrotic type. Quart J Med. 1939;8:97–113. 9. Goeckermann WH. Congenital ectodermal defect: with report of a case. Arch Derm Syph. 1920;1:396–412. 10. MacKee GM, Andrews GC. Congenital ectodermal defect. Arch Derm Syph. 1924;10:673–701. 11. Orge C, Bonsmann G, Hamm H. Multiple sebaceous gland hyperplasias in X chromosome hypohidrotic ectodermal dysplasia. Hautarzt. 1991;42:645–647. 12. Touraine MA. Anidrose avec hypotrichose et anodontie (Complexe majeur de la ‘dysplasie ectodermique héréditaire avec anidrose’). Bull Soc Fr Dermato Syph. 1935;42: 1529–1539. 13. Borggreve KJ, Cohen I. Sur un symptom et l’étiologie de la dysplasia ectodermique congénitale. Dermatologica. 1940;82: 25–29. 14. Martin-Pascual A, De Unamuno P, Aparicio M, Herreros V. Anhidrotic (or hypohidrotic) ectodermal dysplasia. Dermatologica. 1977;154:235–243. 15. Cerio R, Wells RS. Anhidrotic ectodermal dysplasia in three unrelated females. Br J Dermatol. 1985;113:78–79. 16. Reinhold M. Anhidritische ektodermale Dysplasie. Z Hautkr 1985;60:835–837. 17. Dainichi T, Ueda S, Imayama S, Furue M. Excellent clinical results with a new preparation for chemical peeling in acne: 30% salicylic acid in polyethylene glycol vehicle. Dermatol Surg. 2008;34:891–899.
ORIGINAL ARTICLE
Repeated salicylic acid peels for the treatment of hyperplastic sebaceous glands in hypohidrotic ectodermal dysplasia
J Cosmet Laser Ther Downloaded from informahealthcare.com by UMEA University Library on 04/03/15 For personal use only.
THEMIS SGONTZOU, KALLIOPI ARMYRA, ANARGYROS KOURIS, CHARALAMPOS BOKOTAS & GEORGE KONTOCHRISTOPOULOS Department of Dermatology and Venereology, Andreas Sygros Hospital, Athens, Greece Abstract Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) is the most common type of ectodermal dysplasia. Hypertrophic sebaceous glands (HSGs) are rarely present but they cause an aesthetic problem. We report a case of a patient suffering from hypohidrotic ectodermal dysplasia, treated with salicylic acid peels for the hyperplastic sebaceous glands. Key Words: cosmeceuticals, topical agents
Introduction Ectodermal dysplasias comprise a large, heterogenous group of hereditary multisystemic disorders defined by primary defects in the development of two or more tissues derived from the embryonic ectoderm. The most common type is the X-linked recessive hypohidrotic or anhidrotic ectodermal dysplasia (ChristSiemens-Touraine syndrome). This rare disorder typically affects hair, teeth, nails, and eccrine glands (sebaceous and sweat glands), in combination with abnormalities of ectodermal originated tissues, such as the central nervous system, melanocytes, ears, eyes, and the mucous membranes of the mouth and nose (1). The most common mutation involves the ectodysplasin A (EDA) gene of the X chromosome in the Xq12–13 position. In autosomal dominant form, the mutations involve the gene that encodes the receptor for ectodysplasin (EDAR). The associated genes with autosomal recessive form are the EDAR gene and the gene encoding an adaptor factor of the EDA/EDAR signaling system (EDARADD) (2,3). The prevalence of ectodermal dysplasia is estimated at 1–7 cases per 100,000 births in general population (4,5).
Case report A 22-year-old male patient was referred to our department complaining of numerous flesh-colored
papules in confluent plaques symmetrically distributed on his cheeks (Figure 1). The lesions were his main concern, because they were causing him an esthetic problem, provoked emotional impairment, and decreased his quality of life. The patient had been diagnosed during the neonatal period with X-linked hypohidrotic ectodermal dysplasia. His personal medical history indicated no sweating, difficulties in heat regulation, hypodontia, frequent rhinitis and pneumonias up to the age of 15, and recurrent otitis media until the age of 5. He had also undergone surgery in early childhood for aortic stenosis. His family history revealed that his mother had also suffered from decreased sweating and hypodontia. Clinical examination revealed dysmorphic facies with frontal bossing, sunken cheeks, saddle nose, thick everted lips, wrinkled, pigmented periorificial skin and large, low-set ears. He had sparse, thin, fair, brittle scalp hair with alopecia, absence of twothird of the lateral eyebrows, body hair in the axilla and on the chest only. His dental features did not include hypodontia as he had undergone orthodontic procedures one year earlier. The skin was dry – notably particularly on the elbows and knees – hypopigmented, and sweating was absent. His voice was hoarse and had average intelligence. Multiple flesh-colored papules confluent in plaques were mainly observed on the cheeks. Similar diffuse
Correspondence: Kalliopi Armyra, Department of Dermatology and Venereology, Andreas Sygros Hospital, Athens, Greece. E-mail: [email protected] (Received 17 December 2013 ; accepted 25 May 2014 ) ISSN 1476-4172 print/ISSN 1476-4180 online © 2014 Informa UK, Ltd. DOI: 10.3109/14764172.2014.948454
J Cosmet Laser Ther Downloaded from informahealthcare.com by UMEA University Library on 04/03/15 For personal use only.
294
T. Sgontzou et al.
Figure 1. Flesh-colored papules confluent in plaques symmetically distributed in cheeks.
Figure 3. After treatment with chemical peels.
Discussion papules were also present on the occipital and chest. A punch biopsy obtained from the papules on the right upper cheek disclosed many large lobules of the sebaceous glands surrounding velus hair follicles. No eccrine sweat glands were found. The trichogram demonstrated brittle and twisted hair shafts (pili torti). The starch–iodine test in the axilla and palms was negative and, as such, we can presume that there was an absence of eccrine sweat glands. Initially, we applied topical tretinoin cream 0.05% on the flesh-colored papules of the cheek once a day for 20 days with only a slight improvement. Subsequently, we performed six sessions of 30% salicylic acid superficial chemical peels; each every 15 days. The improvement was remarkable. The few remaining papules were removed with one session of electrosurgery. After 6 months follow-up, the results remained satisfactory and no recurrence was observed. The patient declared that he was satisfied by his appearance, his self-esteem was boosted and his quality of life was improved (Figures 2 and 3).
Figure 2. Before treatment with chemical peels.
There are a number of studies that describe papular lesions on the face of patients with hypohidrotic ectodermal dysplasia, but they are neither confluent plaques nor constitute an esthetic problem, such as observed in our case. The clinical diagnosis of the papules was sebaceous hyperplasia (6–16). Histologic examination of the papules revealed “large sebaceous glands surrounding vellus hair follicles” (6,7). In our case, the histopathological findings were in accordance with the biopsies mentioned above. Salicylic acid is a lipophilic beta-hydroxy acid possessing keratolytic, comedolytic, anti-inflammatory, and antibacterial properties. At concentrations between 20% and 30% it is used for superficial chemical peels in the treatment of acne vulgaris, hyperpigmentation and mild photodamage. It removes intercellular lipids that are covalently linked to the cornified envelope surrounding cornified epithelioid cells (17). Sebaceous glands are composed of two types of cells: the lipid-producing cells (sebocytes) and the stratified squamous cells lining the ductal epithelium. The secretion mechanism of sebaceous glands is holocrine via rupture of individual sebocytes releasing the sebum. Sebum is the excretory product of the sebaceous glands. Due to its lipophilic nature, salicylic acid penetrates the sebaceous material in the follicles and thus it is able to induce exfoliation within the infundibulum. It also disrupts the intercorneocyte cohesion and leads to desquamation. The above actions of salicylic acid may be responsible for the decrease in the activity and the size of sebaceous glands. It can been used as a peeling agent with satisfactory results in the treatment of hyperplastic sebaceous glands. The previous studies have not suggested any therapy for the papular lesions, probably because they were not strongly apparent and were not causing an esthetic problem to the patients. We report an alternative therapeutic approach with salicylic acid peels to hyperplastic sebaceous glands in a patient suffering from ectodermal dysplasia with notable esthetic improvement.
Hyperplastic sebaceous glands in hypohidrotic ectodermal dysplasia Declaration of interest: The authors report no declarations of interest. The authors alone are responsible for the content and writing of the paper.
J Cosmet Laser Ther Downloaded from informahealthcare.com by UMEA University Library on 04/03/15 For personal use only.
References 1. Irvine AD, Mellerio JE. Genetics and genodermatoses. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s textbook of dermatology, Vol 1. 8th ed. Oxford: Wiley-Blackwell; 2010. 15:27–28. 2. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. 1999;22: 366–369. 3. Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature. 2001;414:913–916. 4. Clarke A. Hypohidrotic ectodermal dysplasia. J Med Gen. 1987;24:659–663. 5. Kerr CB, Wells RS, Cooper KE. Gene effect in carriers of anhidrotic ectodermal dysplasia. J Med Gen 1966;3:169–176. 6. Piletta PA, Calza AM, Masouyé I, Harms M, Saurat JH. Hypohidrotic. Ectodermal Dysplasia with recurrent otitis and sebaceous gland hypertrophy of the face. Dermatol. 1995; 191:355–358.
Notice of Correction Changes have been made to this article since its original online publication date of 13 August 2014.
295
7. Katz SI, Penneys NS. Sebaceous glands papules in anhidrotic ectodermal dysplasia. Arch Derm. 1971;103:507–509. 8. De Silva PCC. Hereditary ectodermal dysplasia of anhidrotic type. Quart J Med. 1939;8:97–113. 9. Goeckermann WH. Congenital ectodermal defect: with report of a case. Arch Derm Syph. 1920;1:396–412. 10. MacKee GM, Andrews GC. Congenital ectodermal defect. Arch Derm Syph. 1924;10:673–701. 11. Orge C, Bonsmann G, Hamm H. Multiple sebaceous gland hyperplasias in X chromosome hypohidrotic ectodermal dysplasia. Hautarzt. 1991;42:645–647. 12. Touraine MA. Anidrose avec hypotrichose et anodontie (Complexe majeur de la ‘dysplasie ectodermique héréditaire avec anidrose’). Bull Soc Fr Dermato Syph. 1935;42: 1529–1539. 13. Borggreve KJ, Cohen I. Sur un symptom et l’étiologie de la dysplasia ectodermique congénitale. Dermatologica. 1940;82: 25–29. 14. Martin-Pascual A, De Unamuno P, Aparicio M, Herreros V. Anhidrotic (or hypohidrotic) ectodermal dysplasia. Dermatologica. 1977;154:235–243. 15. Cerio R, Wells RS. Anhidrotic ectodermal dysplasia in three unrelated females. Br J Dermatol. 1985;113:78–79. 16. Reinhold M. Anhidritische ektodermale Dysplasie. Z Hautkr 1985;60:835–837. 17. Dainichi T, Ueda S, Imayama S, Furue M. Excellent clinical results with a new preparation for chemical peeling in acne: 30% salicylic acid in polyethylene glycol vehicle. Dermatol Surg. 2008;34:891–899.
