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Keratosis follicularis spinulosa decalvans introduction
The term cicatricial (scarring) alopecia covers a broad spectrum
of hair disorders. Although progress has been made in other areas
of dermatology, the epidemiology and therapy of the varied forms
of scarring alopecia continue to be elusive and obscure. Diagnosis
of the disease presents difficulty as some of the forms of cicatricial
alopecia share the same clinical features; like permanent destruction
of the hair follicle and irreversible hair loss. In such disorders,
immediate diagnosis and therapeutic intervention are crucial to
arrest the progress of the disease. Keratosis follicularis spinulosa
decalvans has been classified under the lymphocytic group of primary
cicatricial alopecias by the North American Hair Research Society.
Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-linked
disorder (a disorder that come from mutations in genes on the X
chromosome) affecting the skin and the eyes. Also referred to as
Keratosis pilaris decalvans, this rare, inherited syndrome affects
predominantly men and it is characterized by hardening of the skin
(Keratosis) in several parts of the body. Most frequently, the face,
neck, and forearms are involved. The thickening of the skin is accompanied
by the loss of eyebrows, eyelashes and beard, and alopecia of the
scalp usually occurs. There is visible atrophy and development of
photophobia (sensitivity to light).
Keratosis follicularis spinulosa decalvans (KFSD) was originally
described by Lameris in 1905 but the condition was given the name
ichthyosis follicularis. The term KFSD was coined by Siemens in
1926. Keratosis pilaris atrophicans faciei (also known as ulerythema
ophryogenes) and atrophoderma vermiculata are morphologically similar
disorders, but do not show clinical symptoms of scalp involvement.
Keratosis Pilaris Atrophicans Faciei causes an unsightly atrophy
of the facial skin to develop. When the outer eyebrows are affected,
the condition is known as "ulerythema ophryogenes". Atrophoderma
vermiculata is characterized by severe “worm-eaten” appearance
of the cheeks.
Rand and Baden were the first to suggest the term ‘Keratosis
pilaris atrophicans’, which encompasses ulerythema ophryogenes,
Keratosis pilaris rubra atrophicans faciei, folliculitis rubra,
lichen pilare, atrophoderma vermiculata and Keratosis follicularis
spinulosa decalvans under one umbrella. Other authors consider Keratosis
Follicularis Spinulosa Decalvans, Keratosis pilaris atrophicans
faciei and atrophoderma vermiculata – all varying aspects
of one disease.
In general the disease is often more severe in the male sex than
among females. There may be improvement or remission after the attainment
of puberty, but this cannot be stated with conviction. Keratosis
Follicularis Spinulosa Decalvans is associated occasionally with
atrophy and a genetically determined tendency to develop allergies.
Keratosis follicularis spinulosa decalvans clinical features
Akin to other forms of scarring alopecia, the epidemiology of Keratosis
Follicularis Spinulosa Decalvans still remains a mystery and remains
a challenge clinically. Keratosis pilaris tends to occur when excess
keratin (a natural fibrous protein in the skin found normally in
human hair and nails) accumulates around hair follicles. This follicular
hyperkeratosis normally occurs during infancy or early childhood,
manifesting first on the face, invariably affecting the eyebrows,
cheeks, forehead and nose. Keratosis pilaris is uncommon in elderly
people.
The lesions of Keratosis Follicularis Spinulosa Decalvans are classically
flesh colored but can be reddish as well. Red brown telangiectases
may also be seen. Eventually the disease progresses and affects
the scalp, neck, trunk and extremities. The affected person may
complain of mild pruritis or itching and tenderness may be observed.
As the disease advances, the scalp begins to look patchy, and soon
eyebrow and eyelash alopecia is evident. The end stage of the hair
loss is characterized by scarring.
Residual follicular plugging with adjoining redness and atrophy
(degeneration) of the skin, especially on the face, are other observed
clinical symptoms of Keratosis Follicularis Spinulosa Decalvans.
Since this condition is probably a disorder of keratinization in
which the sticky cells that line the hair follicle form a horny
plug instead of exfoliating and being released out of the follicle,
the pores widen, making them appear more obvious than elsewhere.
The development of small and circumscribed elevations of the skin
called pustules, containing purulent material or pus is often associated
with S. Aureus infection. Abnormal sensitivity to light called photophobia
characteristically occurs along with the skin manifestations. Ophthalmologic
examination of the eyes most often reveals conjunctiva and eyelid
inflammation; other ocular abnormalities like corneal dystrophy
can gradually develop in this condition.
Keratosis follicularis spinulosa decalvans differential diagnosis
The overlap in clinical features between subtypes of scarring follicular
keratoses can lead to misdiagnoses. In the case of Keratosis Follicularis
Spinulosa Decalvans, atrophic alopecia of the scalp and eyebrows
is a hallmark of the disease. The dermatological and ophthalmic
markers of Keratosis Follicularis Spinulosa Decalvans in patients
include photophobia, widespread hyperkeratosis pilaris-like lesions,
and scarring alopecia. With the rare exception of atrophoderma vermiculata,
which is characterized by honeycomb atrophy of the cheeks, scarring
alopecia of the scalp is absent in other variants of Keratosis pilaris
atrophicans, differentiating Keratosis Follicularis Spinulosa Decalvans.
Keratosis Follicularis Spinulosa Decalvans may be confused with
Graham Little syndrome in adults, lichen planopilaris and folliculitis
decalvans in those with pustules.
Keratosis follicularis spinulosa decalvans pathology
Although there is insufficient data and documentation with respect
to the histopathological findings of scalp biopsy specimens of Keratosis
Follicularis Spinulosa Decalvans, a skin biopsy specimen may be
sent for histological examination, including special stains for
collagen and elastic fibers. A study on the tissue specimen is considered
to help diagnose the disorder and to rule out other diseases in
the differential diagnosis. The hallmark of Keratosis Follicularis
Spinulosa Decalvans appears to be compact hyperkeratosis and hypergranulosis
of the upper follicular epithelium, indicating abnormal keratinization.
There is follicular plugging and absence of hair shafts.
In biopsies of acutely inflamed lesions, superficial intra-follicular
and perifollicular accumulation of fluid is observed, and neutrophils
(a type of white blood cell) are seen. With advancing disease, a
thin perivascular and perifollicular single nucleus cell infiltrate
becomes apparent in conjunction with the deposition of a stringy
substance called mucin and loose connective tissue around the upper
follicle. Plasma cells, which are special white blood cells that
produce antibodies, may be seen. In end stage disease, there is
granulomatous inflammation with follicular destruction, concentric
perifollicular and horizontal adventitial lamellar fibrosis, and
scarred follicular tract. Absence of sebaceous glands has also been
reported in some cases.
Keratosis follicularis spinulosa decalvans treatment
Correct diagnosis and prompt therapeutic intervention is crucial
to the management of Keratosis Follicularis Spinulosa Decalvans,
especially in children. To obtain a proper diagnosis, first an overall
assessment is done to determine if a normal number of hair follicles
are present. The pattern of inflammation is also indicative of the
type of alopecia. Overall, the number of hair follicles, the state
of hair growth and the pattern of inflammation aid in the final
diagnosis.
Just as there is limited information about the etiology, pathology
and histology of scalp Keratosis Follicularis Spinulosa Decalvans,
there is no defined course of treatment either. Again, because it
is probably a genetic disorder, a definite cure is unavailable.
A lot of research has been carried out in the study of hair follicle
recycling and genetic abnormalities, but many mysteries yet remain
unsolved and clinicians and pathodermologists have insufficient
guidance in the treatment of these related disorders.
Baseline and routine ophthalmologic examinations are suggested.
Variable degrees of improvement have been found with the following
methods:
- Mid to high potency topical corticosteroids and intralesional
injections of triamcinolone acetonide can be of some benefit
but usually require sustained use.
- Oral retinoids have been used
with wide ranging results. Results are found to be more positive
if given in the active phase of
hair loss. Prolonged therapy of high dosage should be avoided, and administration
of oral retinoids in children and adolescents should be prudent.
- Inflamed pustules associated with S. aureus infection usually
respond to anti staphylococcal agents.
- If the pustules do not
respond to anti staphylococcal agents, they may respond to Dapsone,
an antibacterial drug used to treat
forms of dermatitis.
- The use of Rifampin (an antibacterial drug) has been
reported as ineffective.
- Laser assisted hair removal may also
benefit inflammation in some cases. The theory behind this as
purported by Chui et
al is that progression can be halted by destroying the target of the disease.
Keratosis follicularis spinulosa decalvans references
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nuchae. Australas J Dermatol. 2005 Nov;46(4):257-60.
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with keratosis follicularis spinulosa decalvans. J Am Acad Dermatol.
2002 Nov;47(5 Suppl):S275-8. Review. PMID:
12399750
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E, Van der Bent P, Heus JJ, Van Ommen GJ, Den Dunnen JT. High-resolution
mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing
the human RS, KFSD and CLS
disease
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RC. Cicatricial alopecia and keratosis
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AP, Wittebol-Post D, van Oost BA. Linkage
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