Observation: Wooly hair is usually present at birth or infancy with a genetic linkage of autosomal dominant or recessive. Hair is curly, thick and often heavily pigmented. This condition has been reported with eye, teeth, cardiac anomalies. Also, keratosis pilaris atrophicans, ichtiyosis and deafness, palmoplantar keratoderma and Noonan syndrome may accompany wooly hair. We report two sisters w...

BACKGROUND Acne vulgaris has an important genetic predisposition, as well as keratosis pilaris. Clinical observations suggest that patients with keratosis pilaris have less frequent or less severe acne breakouts; however, we found no studies on this regard OBJECTIVE To determine if the presence of keratosis pilaris is associated with lower prevalence and severity of acne. METHODS A cross-se...

1. van Osch LD, Oranje AP, Keukens FM, Voorst Vader van PC, Veldman E. Keratosis follicularis spinulosa decalvans: A family study of seven male cases and six female carriers. J Med Genet 1992;29:36-40. 2. Fong K, Wedgeworth EK, Lai-Cheong JE, Tosi I, Mellerio JE, Powell AM, et al. MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. Clin Exp Dermatol 2012;37:63...

We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints in...

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.