Keratosis Follicularis Spinulosa Decalvans Associated with Leukonychia

The Editor,

Sir,

Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-linked disorder (1, 2) characterized by diffuse follicular hyperkeratosis, progressive scarring alopecia of scalp, eyebrows, and eyelashes and may be accompanied by photophobia, corneal and conjunctival inflammation and dystrophy, tooth abnormalities, ichthyosiform xerosis, facial erythema, atopic dermatitis, hair disorders and nail dystrophies (3). We report here a case of KFSD with leukonychia partialis.

A 24-year old Turkish man suffering from oozing, crusting wounds on his scalp and white discoloration of his nails was referred to the Department of Dermatology, Haseki Research and Training Hospital. He presented with a progressive hair loss and periodic white discoloration (lasting for four to five months and then recovering for one to two months) of his nails twice a year for 15 years.

His dermatological examination revealed sparse hair on the scalp with patchy atrophic areas (Fig. 1), sparse thin eyelashes and erythematous cheeks with multiple keratotic papules, 0.1 mm in diameter. There were follicular keratotic papules and postinflammatory hyperpigmentation on his scalp near the hair border, the back of his neck and throughout the trunk. Mild hyperkeratosis on his palms and soles, opaque white discoloration and significant cuticula on his entire finger nails were evident (Fig. 2). The patient did not have any subungual or nail bed abnormality and mycologic examinations were negative.

Fig. 1. Sparse hair on the scalp and atrophic areas as patches.

Fig. 2. Opaque whitening and significant cuticula on finger nails, most notable on second, third and fifth nails.

The ophthalmological examination revealed bilateral subepithelial corneal opacities. The patient was otherwise healthy and laboratory tests showed no abnormalities. Histopathology from follicular papules of the scalp showed marked osteal dilatation, hyper and parakeratosis, complete degeneration of the inner and outer root sheath in the follicule. The follicular infundibulum showed a perifollicular fibrosis with a medium dense inflammatory cell infiltrate composed of lymphocytes, plasma cells and neutrophils and a mild perivascular lymphocytic infiltrate was present. The epidermis was not involved except for the marked acrosyringeum. Skin biopsy specimens from the alopecic areas of the scalp showed complete loss and fibrosis of hair follicles.

Nail biopsy specimen showed hypergranulosis in the matrix and mild parakeratosis in the nail plate. Histopathology from the distal end of the opaque nails showed cells with keratohyalin content, suggesting the diagnosis of true leukonychia.

Scarring alopecia of the scalp and eyelashes with childhood onset, facial erythema, diffuse follicular hyperkeratosis on the trunk, bilateral corneal opacities, as well as atrophy seen in histopathologic examination of the scalp skin and follicular hyperkeratosis in the skin biopsy specimen of the papules suggested to us the diagnosis of KFSD for this case.

We report, to our knowledge, the first case of KFSD with leukonychia partialis and suggest that leukonychia may be seen in KFSD.