Brauer-Buschke-Fisher Syndrome - Report of a Case & Review of the Literature
Keywords:
Keratoderma, Brauer-Buschke-Fischer syndrome, Palmoplantar keratodermaAbstract
The palmoplantar keratodermas (PPKs) are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles. Hereditary punctate palmoplantar keratoderma also known as Brauer-Buschke-Fischer syndrome belongs to a group of rare genodermatosis with a prevalence estimated at 1.17/100000. Punctate PPK, in which multiple tiny "raindrop" keratoses involve the palmoplantar surface. They may involve the whole of the palmoplantar surface or may be more restricted in their distribution. Considerable intra- and interfamily variation is often seen. Hereby we report a case of 70-year-old Indian man, working as a farmer, reported to Dermatology OPD with multiple asymptomatic swellings on the palms and soles. The lesions developed since childhood and slowly increased in size and number thereafter. His sister and son had similar lesions on the palms and soles. Examination revealed numerous yellowish brown, hard, opaque, keratotic papules varying in size from 1 to 4 mm irregularly distributed on his palms, fingers, and soles. Some of the papules were coalesced to form larger hyperkeratotic plaques of varying sizes. Small & large lesion coexisted. The patient had no history of itching, bleeding, exposure to arsenic, seasonal variations or any dermatological/ systemic associations. We diagnosed the disease as Punctate Palmoplantar keratoderma type 1 based on a positive family history, typical lesions at typical locations with typical course.
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References
Tamihiro Kawakami (2013). Hereditary Palmoplanter Keratosis, Current Genetics in Dermatology, Dr. Naoki Oiso (Ed.), ISBN: 978-953-51-0971-6.
Stevens HP, David PK, Stephen P, Bryant , Timothy BD, Spurr NK, et al. Linkage of an American pedigree with palmoplantar keratoderma and malignancy (Palmoplantar ectodermal dysplasia type III) to 17q 24: Literature survey and proposed updated classification of the keratodermas. Arch Dermatol 1996;32:640-51.
Judge MR, Mclean WHI, Munro CS, Burns T, Breathnach S, Cox N, et al. Disorders of Keratinization. In Rook’s Textbook of Dermatology. 8th ed. United Kingdom: Wiley-Blackwell Publisher (P) Ltd; 2010. P. 19.93-19. 119
Sharma S, Barman KD, Garg VK, Jain S. Unilateral linear punctate palmoplantar keratoderma. Indian J Dermatol Venereol Leprol 2012;78:85-8.
Zur R, Shapero H, Shapero J. Dermacase. Can you identify this condition? Punctate palmoplantar keratoderma. Can Fam Physician. 2013;59:748, 752.
Zhang , X. J.., Li, M., Gao, T. W., He, P. P., Wei, S. C., Liu, J. B., Li, C. R., Cui, Y., Yang, S.,Yuan, W. T., et al. (2004). Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24. 13-8q24. 21. J. Invest. Dermatol. 122, 1121-1125.
Furniss M, Higgins CA, Martinez-Mir A, Horev L, Petukhova L. Identification of distinct mutations in AAGAB in families with type 1 invest Dermatol. 2014;134: 1749-1752.
Li M, Dai X, Cheng R, Yang L, Yao Z. A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma. Acta Derm Venereol. 2014;94:339-340.
Nomura T, Yoneta A, pohler E, Suzuki S, Osawa R. Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. Acta Derm Venereol. 2015;95: 110-111.
Guo BR, Zhang X, Chen G, Zhang JG, Sun LD. Exome sequencing identifies a COL 14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet. 2012;49:563-568.
Gupta R, Mehta S, Pandhi D, Singal A. Hereditary Punctate Palmoplantar Keratoderma (PPK) (Brauer-Buschke-Fischer Syndrome). J Dermatol. 2004;31:398-402.
Leung AK, Barankin B. Aquagenic palmar Keratoderma. Pediatr Rev.
Erkek E, Ayva S. Wood’s light excites white fluorescence of type I hereditary punctate keratoderma. J Eur Acad Dermatol Venereol. 2007;21:993-994. 10 Mansari O, Zentar A, Sair K, Sakit F, Bounaim A, Janati IM. Peritoneal hydatid cysts. Apropos of 12 cases. Ann Chir2000;125:353-357.
Polat P, Kantarci M, Alper F, Suma S, Koruyucu MB, Okur A. Hydatid Disease from Head to Toe. Radiographics 2003;23:475-94.
Shah DS, Parikh H, Shah B, Banuprakash S, Shah J. Imaging appearances of hydatid cyst.Ind J Radiol Imag 4:533-535.
World Health Organization: Guidelines for treatment of cystic and alveolar echinococcosis in human. WHO Informal Working Group on Echinococcosis. Bull World Health Organ 1996,74(3):231-42.
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