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ISSN 0210-5187 (Electronic)

2012, Number 3

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Med Cutan Iber Lat Am 2012; 40 (3)

A new familial case of Jackson-Sertoli syndrome. A review of the clinical and genetics aspects

Cammarata-Scalisi F, Sánchez FR, Labrador CN, Stock F, Petrosino P, Milano M, Arenas SA, Estéves GJ

Language: Spanish
References: 19
Page: 89-93
PDF size: 106.20 Kb.


ABSTRACT

Pachyonychia congenita (PC) is a rare keratin disorder which the main clinical sign is onychodystrophy. PC can be classified into two main clinical subtypes: pachyonychia congenita type 1 and 2. The type 2 is associated with mutations in keratin gene: K6b y K17. Steatocystoma multiplex is an uncommon keratin disorder of the pilosebaceous unit characterized by the development of numerous sebum-containing dermal cysts. Mutations in K17 have been too demonstrated in patients with this entity. We report a family with variable and oligosymptomatic form of pachyonychia congenita and steatocystoma multiplex. The association of both entities according to the Schonfeld classification correspond a new familial case of Jackson-Sertoli syndrome.


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