P#04  Familial keratosis follicularis spinulosa decalvans associated with wooly hair

Alfredo Rossi1, Giuseppe Pistola1, Luca Barbieri1, Francesco Lacarrubba2 and Giuseppe Micali2. 1Dept of Dermatology and 2Plastic Surgery, University "La Sapienza", Rome, Italy

Keratosis follicularis spinulosa decalvans (KFSD) is a rare inherited X-linked disorder of keratinization, whose gene has been mapped to chromosome Xp22.13-p22.2. It is clinically characterized by diffuse follicular hyperkeratosis, scarring alopecia of scalp, eyebrows and eyelashes, corneal dystrophy and photophobia; palmoplantar keratosis, atopy and, rarely, nail abnormalities may also be present. Two cases, a 35-year-old woman and her 14-year-old son, both showing alopecia of the parietal regions of the scalp, respectively from the age of 23 and 9 years, are described. Dermatologic examination also disclosed in both patients diffuse cutaneous follicular hyperkeratosis, curly, thick, and heavily pigmented scalp hair, and nail thickening. In addition, alopecia of the eyelashes and dental anomalies, including agenesis, inclusion and tooth malformation, were present in the child. Histological examination of a biopsy specimen of the scalp revealed in both cases a non-lichenoid scarring alopecia. On the basis of clinical and histologic findings, a diagnosis of KFSD in patients with woolly hair was made. Interestingly, at follow-up control both the mother and the child simultaneously developed inflammatory tinea capitis caused by Microsporum canis, which was successfully treated with a 6-weeks course of terbinafine 250 mg/day.