Punctate Palmoplantar Keratoderma (Brauer-Buschke-Fisher Syndrome)-Report of a Case and Review of the Literature

Punctate palmoplantar keratoderma type 1, also known as Brauer-Buschke-Fisher syndrome, is an autosomal dominant inherited disorder with variable penetrance. The disorder is characterized by multiple punctate hyperkeratotic papules on the palms and soles. Although it is a clinical rarity, a spot diagnosis can usually be made provided one is familiar with the condition thereby unnecessary diagnostic procedures can be avoided. A review of the topic is therefore in order and is the purpose of the present article.

[1]  A. Fougerousse,et al.  [Aquagenic palmar keratoderma]. , 2018, Presse medicale.

[2]  H. Shimizu,et al.  Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. , 2015, Acta dermato-venereologica.

[3]  Ming Li,et al.  A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma. , 2014, Acta dermato-venereologica.

[4]  O. Sarig,et al.  A novel splice‐site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family , 2014, Clinical and experimental dermatology.

[5]  A. Christiano,et al.  Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma , 2014, The Journal of investigative dermatology.

[6]  J. Shapero,et al.  Dermacase. Can you identify this condition? Punctate palmoplantar keratoderma. , 2013, Canadian family physician Medecin de famille canadien.

[7]  Liangdan Sun,et al.  Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma , 2012, Journal of Medical Genetics.

[8]  S. Orlow,et al.  Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma. , 2009, Archives of dermatology.

[9]  S. Ayva,et al.  Wood's light excites white fluorescence of type I hereditary punctate keratoderma , 2007, Journal of the European Academy of Dermatology and Venereology : JEADV.

[10]  N. Al‐Mutairi,et al.  Punctate palmoplantar keratoderma (Buschke-Fischer-Brauer disease) with psoriasis: a rare association showing excellent response to acitretin. , 2005, Journal of drugs in dermatology : JDD.

[11]  A. Brauer Über eine besondere Form des hereditären Keratoms (Keratoma dissipatum hereditarium palmare et plantare) , 2005, Archiv für Dermatologie und Syphilis.

[12]  D. Pandhi,et al.  Hereditary Punctate Palmoplantar Keratoderma (PPK) (Brauer‐Buschke‐Fischer Syndrome) , 2004, The Journal of dermatology.