ABSTRACT- Keratosis follicularis spinulosa decalvans (KFSD) is a hereditary disorder of the hair follicle which
presents with scarring alopecia and follicular papules affecting the scalp and other areas of the body. Being X-linked it is
more common in males but rarely, can be seen in females. We report this rare disorder in siblings affecting both male and
Key-words- Keratosis follicularis spinulosa decalvans, Siblings, scarring alopecia, Child, Keratotic papules
Keratosis pilaris atrophicans is a broad term encompassing
three rare and distinct clinical entities including keratosis
pilaris atrophicans faciei (KPAF), atrophoderma
vermiculata and keratosis follicularis spinulosa decalvans.
Common to these conditions are keratotic follicular
papules, non-purulent inflammation of variable degree and
atrophic end stages characterized by irreversible hair loss
and/or atrophic depressions similar to pitted scars.it has
X- linked inheritance however cases have also been seen in
families suggesting autosomal dominant pattern of
inheritance . Very few cases of KFSD have been reported
in Indian literature. We hereby present a case report of
KFSD, a rare cause of scarring alopecia in siblings.
Three year old male child born prematurely at 7 month of
gestation period presented with history of absence of scalp
and eyebrow hair since birth and rough skin over scalp
since 2 years. At birth, parents noticed absence of scalp and
eyebrow hair. After 1 year of age fine, brittle and scanty
On physical examination multiple follicular, skin coloured
keratotic papules were present on scalp (Fig. 1) and
extensor aspect of bilateral arms. Hairs on scalp were
sparse, short and brittle with areas of scarring alopecia (Fig.
Eyebrows and eyelashes were also sparse. Teeth, nails,
palms and soles were found to be normal. There was no
history of photophobia and ophthamological examination
revealed no abnormal findings. His younger sister 2 year
old of age had similar complaints. She also had similar
lesions over scalp with loss of scalp and eyebrow hairs
(Fig. 4). Parents were unaffected.
Hair microscopy and dermoscopy of scalp hair was done to
rule out monilethrix and found to be normal. Punch biopsy
was taken from male child but not from his younger
sibling. Histopathological examination revealed dilation of
follicular infundibulum and plugging with orthokeratotic
corneocytes with some others showing mild spongiosis.
Few follicles in deep dermis showed dense perifollicular
fibroplasia and sparse superficial perivascular and
periappendageal lymphocytic infiltrate (Fig. 5 & 6). Based
on above clinical feature, family history and histopathology
diagnosis of keratosis follicularis spinulosa decalvans was
Our patient was started on 0.5 mg/kg of isotretinoin and
topical retinoic acid 0.025%at night time. Lesions on body
were treated with retinoic acid at night and urea containing
moisturizers at day time. After 2 months patient had
improvement in terms of increased hair growth and absence
of disease progression (Fig. 3). Follicular lesions softened
but persisted. He was asked to continue same treatment and
come back for review in a month time.
Figure 1: Multiple skin coloured keratotic follicular
papules with sparse hair
Figure 2: Follicular papules with areas of Scarring
alopecia before starting treatment
Fig. 3: After 1 month of giving isotretinoin therapy
Fig. 4: Siblings with Sparse hair and Follicular
Fig. 5 & 6: Dilation of follicular infundibulum and
plugging with orthokeratotic corneocytes. Few follicles
in deep dermis showed dense perifollicular fibroplasia
and sparse superficial perivascular and
periappendageal lymphocytic infiltrate
Keratosis follicularis spinulosa decalvans is a rare genetic
disorder first described by Macleod however descriptive
term was first used by Siemens in 1926 
. It has X-linked
dominant mode of inheritance mapped to chromosome Xp
22.13- p 22.2. The candidate gene suggested is the
membrane-bound transcription factor protease site 2
(MBTPS2) genes which is required for cleavage of sterol
regulatory element-binding proteins (SREBPs). Altered
SREBP cleavage impairs cholesterol and lipid homeostasis
in the skin causing defective epidermal differentiation .
This condition affects predominantly males with females
being carriers showing no disease or only mild forms. The
process of lyonization (non –random X inactivation) may
explain expression of KFSD in women. However cases
have also been seen in families suggesting autosomal
dominant inheritance . In present case report, both brother
and sister are affected without any other family members
being involved. They may either have X-linked dominant
inheritance with process of lyonization explaining the
manifestations in sister or autosomal dominant pattern of
inheritance with variable penetrance.
The condition begins in infancy with follicular keratosis on
nose and cheeks and then on scalp, eyebrows, neck and
body. Scarring alopecia of eyebrows and scalp begins in
early childhood and progresses till puberty. Associated
features include palmoplantar keratoderma, with
predilection for calcaneal region, high periungual cuticles
. The ocular abnormalities include photophobia, keratitis,
conjunctivitis, congenital glaucoma and lenticular cataract
The differential diagnosis of KFSD includes ichthyosis
follicularis alopecia, photophobia syndrome, lichen
planopilaris and lichen spinulosa. IFAP syndrome is
characterized by non-scarring alopecia in contrast to KFSD.
The other two conditions can be differentiated by thorough
clinic-pathological examination /
Treatment of KFSD is usually unsatisfactory. Topical
treatment comprises mainly of keratolytics and emollients
. Systemic retinoids like isotretinoin and etretinate are
beneficial in the early stages of the disease as they
downregulate follicular hyperkeratosis and inflammation 
Dapsone was found to be useful due to its inhibition of
leukocyte chemotaxis and stabilization of lysosomal
. Other treatments tried include antibiotics,
intralesional and topical steroids. Hair reduction lasers have
also been tried 
It is a rare cause of scarring alopecia affecting both brother
and sister. Very few cases of Keratosis follicularis
spinulosa decalvans have been reported in Indian literature
especially in females.
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