Sir,

Spinular follicular keratosis of Siemens (SFKS) is a rare X-linked or sporadic genodermatosis characterized by follicular hyperkeratosis and scar alopecia, palmoplantar hyperkeratosis (PPK), photophobia, corneal abnormalities, and atopy. Males are severely affected, yet females may also develop severe lesions in the context of usually X-linked inherited diseases. Herein, we report three cases of SFKS confirmed by biopsy.

The first case was a five-year-old boy from non-blood parents with a reported absence of hair at birth and no complaints of photophobia or atopy. No other similar cases were reported in the family. A dermatological examination revealed diffuse cicatricial alopecia of the scalp, eyelashes, and eyebrows and hyperkeratotic papules on the forehead and body associated with localized PPK and pachyonychia (Figs. 1a and 1b),

Figure 1: a) Palmoplantar keratoderma. b) Pachyonychia.

The second case was an eight-year-old boy from a nonconsanguineous marriage who had diffuse hair loss with depilation of the eyelashes and eyebrows since the age of two months, accompanied by photophobia, with no other similar cases in the family. A dermatological examination revealed scar alopecia on the scalp, complete depilation of the eyelashes, eyebrows, and body and follicular (Fig. 2) papules on the forehead and temporal region with localized KPP.

Figure 2: Frontal parietal alopecia with keratosis pilaris of the forehead.

The third was a five-year-old girl from consanguineous second-degree parents with hair breakage and thinning without photophobia from three months of age, with a similar case in her younger sister. A dermatologic examination of both sisters revealed short, thin, woolly hair (Fig. 3), depilation of the eyelashes, eyebrows, and the rest of the body with the appearance of goosebumps, and plantar hyperkeratosis located on the heels of both feet.

Figure 3: Woolly thinning hair.

A histopathologic examination of the scalp confirmed the diagnosis of SFKS in three of our patients, and an ophthalmologic examination revealed no abnormalities. All patients were prescribed topical keratolytic and emollient creams, and two of them were prescribed oral acitretin, which improved keratosis pilaris and palmoplantar without affecting the hair.

SFKS is a rare disease with X-linked or sporadic genetic transmission characterized by follicular hyperkeratosis and scar alopecia [1]. The pathophysiology of hair follicle destruction is not yet fully understood [2]. The disease usually begins in early childhood and worsens in adolescence, initially on the face progressing to the trunk and extremities [1]. PPK, photophobia, corneal abnormalities, and atopy may occur [3]. Therapy is not especially effective, and treatment is ineffective in the presence of changes that are mostly scarring. Although rare, SFKS should always be considered in all cases of follicular and/or palmoplantar hyperkeratosis with alopecia because, in addition to the genetic counseling necessary in some cases, treatment for this condition should be initiated as early as possible to delay and minimize scarring [2].

REFERENCES

1.  Dassouli R, BayBay H, Couissi I, Kalmi N, Douhi Z, Elloudi S, Rimani M, Mernissi FZ. Spinular follicular keratosis of Siemens associated with wooly hair in two sisters:Trichoscopic description and anatomopathological correlation. Our Dermatol Online. 2022;134:449-52.

2.  Helbig D, Grabbe S, Jansen T. Keratosis follicularis spinulosa decalvans. Hautarzt. 2008;591:46-9.

3.  Berbert AL, Mantese SA, Rocha A, Cherin CP, Couto CM. Keratosis follicularis spinulosa decalvans:Case report. An Bras Dermatol. 2010;854:537-40.