Darier-White syndrome

(redirected from follicular keratosis)

Darier-White syndrome

A rare autosomal dominant disorder of keratinisation characterised by multiple focal keratotic papules with acantholytic dyskeratosis. It first appears in childhood or adolescence with the formation of numerous flesh-colored papules in sebaceous areas of the skin glands—chest, scalp, forehead, back, ears, groin, nasolabial folds—which, with time, become encrusted. The nails are dystrophic, palms possibly pitted; variable retinitis pigmentosa and cataracts.

Molecular pathology
Defect in the desmosome-keratin filament complex due to ATP2A2 mutations.
References in periodicals archive ?
Notably, inherited keratin mutations causing type 2 pachyonychia congenita can produce EVHC along with a characteristic nail dystrophy, focal palmoplantar keratoderma, follicular keratosis, and multiple steatocysts.
Within this category, diagnoses may include irritated seborrheic keratosis, (6) inverted follicular keratosis, (7) and endophytic pattern verruca vulgaris.
Inverted follicular keratosis is an irritated seborrheic keratosis.
The important consideration in these cases is not the horn, but the underlying pathology which may be benign (Seborrheic keratosis, viral warts, histiocytoma, inverted follicular keratosis, verrucous epidermal nevus, molluscum contagiosum, etc.
Type 1 - PC1: Jadassohn-Lewandowsky syndrome which is characterized by focal palmoplantar keratoderma (PPK), follicular keratosis mainly on the trunk and oral leucokeratosis.
Angular cheilitis, hoarseness, follicular keratosis may be present in both types,
Clinical examination revealed follicular keratosis and broken twisted hair (corkscrew hair), in addition to hemorrhagic lesions.
Age, y/Sex Site Slide 1 11 70/M Nose AK 29 75/M Ear Inverted follicular keratosis 63 27/F Nose Cyst 72 73/F Cheek AK 84 50/F Scalp SK, inflamed 95 19/M Face Lentigo 147 62/F Face AK 203 32/M Trunk Nevus 215 55/F Nose Fibrous papule 279 42/M Forearm Nevus 306 60/M Scrotum Epidermal hyperplasia 310 45/F Thigh Lentigo 395 69/M Shoulder AK 459 79/F Nose AK 464 83/M Ear AK Case No.