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On-line version ISSN 1806-4841
An. Bras. Dermatol. vol.84 no.5 Rio de Janeiro Sept./Oct. 2009
WHAT IS YOUR DIAGNOSIS ?
Carine Veloso de CarvalhoI; Ivander Bastazini JuniorII; Jaison Antonio BarretoIII; Isabela de Brito DuarteIV; Raissa Borém Pimenta de FigueiredoVISecond year resident physician in Dermatology, Instituto Lauro de Souza Lima Bauru (SP), Brazil
IIMD, dermatologist, preceptor, head of the clinical dermatological unit at the Instituto Lauro de Souza Lima Bauru (SP), Brazil
IIIMD, dermatologist, masters degree, head of dermatology at the Instituto Lauro de Souza Lima - Bauru (SP), Brazil
IVSecond year resident physician in Dermatology, Instituto Lauro de Souza Lima Bauru (SP), Brazil
VSecond-year trainee in Dermatology, Instituto Lauro de Souza Lima Bauru (SP), Brazil
Keratosis follicularis spinulosa decalvans is a rare X-linked genodermatosis, characterized by follicular hyperkeratosis, photophobia, scarring alopecia of the scalp and eyebrows. A case of a 25 yearold female with typical clinical picture and progression of this syndrome is described.
Keywords: Alopecia; Genetic diseases, X-linked; Keratosis follicularis
HISTORY OF THE DISEASE
A 25-year-old female patient presented normochromic, pruriginous papules since the age of six months, initially on the face, later on the neck and arms, and generalized to the whole body fast. At 10 years of age she had inflammation on the scalp, followed by progressive hair shedding, in the occipital and temporal regions, as well as on the lateral portion of eyebrows and eyelashes. She denied ocular alterations and mentioned allergic rhinitis as past clinical history. Upon examination, she presented syndromic facies; scarring alopecia on the scalp affecting the frontal, occipital and temporal regions; madarosis (Figure 1); generalized normochromic follicular papules (Figure 2) and excoriations on the fold regions.
Histopathology of the scalp demonstrated hyperkeratosis and accumulated serosity and neutrophils in the follicular ostium, chronic granulomatous suppurative folliculitis and areas of scarring alopecia (Figure 3). The laboratory tests showed no abnormality.
COMMENTSKeratosis follicularis spinulosa decalvans
Keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder, characterized by generalized follicular hyperkeratosis and scarring alopecia of the scalp, eyebrows and eyelashes; it may present photofobia and progress to corneal dystrophy 1,2.
It was described by Siemens as a rare keratinization disorder, in 1925, and since then few cases have been reported.1 KFSD is clinically and genetically heterogeneous but the study of most families affected suggests X-linked inheritance. Women are usually asymptomatic or develop mild forms of the disease. The accurate definition of inheritance is difficult to be made since it is a rare syndrome 1,3,4.
KFSD is classified in the group of genetic skin disorders as keratosis pilaris atrophicans (KPA), with the primary characteristic of association of hyperkeratosis, inflammation and follicular scarring. This group also includes keratosis pilaris atrophicans faciei (ulerythema ophryogenes), which involves mainly eyebrows, front and malar regions, and atrophoderma vermiculatum that affects malar and periauricular regions, evolving with reticulate atrophic scarring (Chart 1). 2,4,5 The variety of KFSD that initiates in puberty is called folliculitis spinulosa decalvans 5.
The picture starts on the first years of life and progress in stages. It appears in childhood as generalized pilar keratosis. During adolescence, there is an exacerbation of follicular hyperkeratosis, followed by inflammation and hair shedding on the scalp, eyebrows and eyelashes. It evolves to scarring alopecia tending to present occipitotemporal distribution.1,2,5 Photofobia, corneal dystrophy and palmoplantar keratoderma may be present 1,2.
The association of KFSD with cutis laxa, deafness, aminoaciduria, mental and growth retardation, Down syndrome, congenital glaucoma, bilateral inguinal hernia, recurrent bacterial infections and atopia has been reported 1,4.
The main differential diagnosis is follicular ichthyosis with alopecia and photofobia. This condition also presents generalized hyperkeratosis, photofobia and corneal dystrophy, but progresses with nonscarring alopecia, absence of sebaceous glands in histology and might present mucosal changes, unlike KFSD. Moroever, KID syndrome, atrichia with papular lesions and hereditary mucoepithelial dystrophy are other differential diagnoses 1,4.
The histopathological findings of KFSD depend on the site and stage of the lesion. The initial lesions show dilated follicular ostia, filled with keratin, with perifollicular mononuclear infiltrate, whereas late lesions display unspecific scarring alopecia 2,3.
There is no effective treatment for KFSD. The literature reports use of systemic antibiotics and retinoids, but with no satisfactory result. Topical keratolytics and corticosteroids seem to have slight effect but do not avoid progression. The disease is characterized by progressive evolution, regardless of therapies available 1,4.
1. Lacarrubba F, Dall'Oglio F, Rossi A, Schwartz RA, Micali G. Familial keratosis follicularis spinulosa decalvans associated with woolly hair. Int J Dermatol. 2007:46;840-3 [ Links ]
2. Khumalo NP, Loo WJ, Hollowood K, Salvary I, Graham RM, Dawber RPR. Keratosis pilaris atrophicans in mother and daughter. J Eur Acad Dermatol Venereol. 2002:16;397-400 [ Links ]
3. Oosterwijk JC, van der Wielen MJ, van de Vosse E, Voorhoeve E, Bakker E. Refinement of the localization of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. J Med Genet. 1995:32;736-9 [ Links ]
4. Herd RM, Benton EC. Keratosis follicularis spinulosa decalvans: report of a new pedigree. Br J Dermatol. 1996:134;138-42 [ Links ]
5. Alfadley A, Hawsawi K, Hainau B, Aboud K. Two brothers with keratosis follicularis spinulosa decalvans. J Am Acad Dermatol. 2002;47:275-8 [ Links ]
Carine Veloso de Carvalho
Rodovia Comandante João Ribeiro de Barrros, Km 226,
17034 971 Bauru SP
Tel.:/Fax: 14 3103-5965.
Conflict of interest: None
Financial funding: None
How to cite this article: Carvalho CV, Bastazini Jr I, Barreto JA, Duarte IB, Figueiredo RBP. Caso para diagnóstico. Queratose folicular espinulosa decalvante. An Bras Dermatol. 2009;84(5):539-41.