background: kallmann syndrome (kal s) is an isolated form of hypogonadotrophic hypogonadism in combination with a defect in smell sensation. depending on the genetic form of the disease, a number of non-reproductive, non-olfactory abnormalities may also be existent. in the present report, we describe a male with kal s associated with hearing loss, and the successful treatment of his sexual and ...

GAP JUNCTIONS PROVIDE A PATHWAY for intercellular communication primarily by directly interconnecting the cytoplasm of adjacent cells (3). This pathway consists of arrays of channels, composed of proteins known as connexins. Connexin channels create a direct conduit enabling diffusion of cytoplasmic molecules, ions, and water between cells. Gap junctions thus coordinate signaling and metabolism...

Le syndrome KID est une anomalie congénitale rare des tissus d'origine ectodermique, caractérisé par une kératite bilatérale progressive accompagnée de néovaisseaux (keratitis), une atteinte cutanée érythro-kératodermique et/ou ichtyosique (ichtyosis) et une surdité de perception sévère (deafness). Nous rapportons le cas d'un jeune garçon de 12 ans, suivi depuis deux ans pour ichtyose, qui cons...

keratosis follicularis spinulosa decalvans (kfsd) represents a rare, probably x-linked recessive genodermatosis, characterized by keratosis pilaris of face, trunk and extremities, followed by atrophy, cicatricial alopecia of the scalp, eyebrows and eyelashes, photophobia and corneal abnormalities. we report a rare case of kfsd and review the literature.

M utations in connexin 26 (GJB2, Cx26) cause autosomal recessive and occasionally dominant non-syndromic sensorineural hearing loss (SNHL). Cx26 mutations have also been identified in SNHL with dermatological features of autosomal dominant diffuse palmoplantar hyperkeratosis (DPPK). We describe a girl with bilateral sloping sensorineural hearing loss, striate palmoplantar hyperkeratosis (SPPK),...

Summary Inherited ichthyoses are a group of genodermatoses classified as either nonsyndromic or syndromic. Nonsyndromic and keratitis, ichthyosis deafness (KID) syndrome predispose to fungal infection. The diagnosis treatment infections underlying challenging. In this review, we summarize reported cases with infection over the past 50 years. Atypical manifestations such alopecia, papules brittl...