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CASE REPORT
Year : 2016  |  Volume : 17  |  Issue : 3  |  Page : 223-225

Keratosis follicularis spinulosa decalvans in a 15 months Cypriot girl


1 Department of Dermatology, Medical Faculty, Near East University, Nicosia, North Cyprus
2 Department of Pediatrics, Medical Faculty, Near East University, Nicosia, North Cyprus
3 Department of Pathology, Medical Faculty, Near East University, Nicosia, North Cyprus

Date of Web Publication5-Jul-2016

Correspondence Address:
Ceyhun Dalkan
Department of Pediatrics, Medical Faculty, Near East University, Yakin Dogu Bulvari 92000, Dikmen, Nicosia
North Cyprus
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.179502

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  Abstract 

Keratosis follicularis spinulosa decalvans (KFSD) is a rare disease with unknown etiology. It clinically presents with diffuse follicular hyperkeratosis of scalp which progress to atrophy, cicatricial alopecia, and photophobia. The lesions start in chilhood and an aggrevasion occurs after puberty by the development of scalp pustules with bacterial infection and causes both functional and cosmetic discomfort. Here, we report a Cypriot girl that diagnosed KFSD that do not have any family history.

Keywords: Cyprus, girl, keratosis follicularis spinulosa decalvans


How to cite this article:
Kaptanoglu A, Dalkan C, Baba F. Keratosis follicularis spinulosa decalvans in a 15 months Cypriot girl. Indian J Paediatr Dermatol 2016;17:223-5

How to cite this URL:
Kaptanoglu A, Dalkan C, Baba F. Keratosis follicularis spinulosa decalvans in a 15 months Cypriot girl. Indian J Paediatr Dermatol [serial online] 2016 [cited 2019 Aug 19];17:223-5. Available from: http://www.ijpd.in/text.asp?2016/17/3/223/179502


  Introduction Top


Keratosis follicularis spinulosa decalvans (KFSD) is a rare disease with unknown etiology. It clinically presents with diffuse follicular hyperkeratosis of the scalp which progress to atrophy, cicatricial alopecia, and photophobia. The lesions start in childhood, and an aggravation occurs after puberty by the development of scalp pustules with a bacterial infection and causes both functional and cosmetic discomfort. Here, we report a Cypriot girl that diagnosed KFSD that do not have any family history.[1],[2]


  Case Report Top


The case was under the examination since 30 weeks of intrauterine life with prenatal double sac and intrauterine pericardial effusion. She was born on 37 weeks of pregnancy with a C/S. She was 2190 g weight (<3 percentile), 45 cm height (<3 percentile), and 30 cm head circumference (<3 percentile) at birth with an APGAR score of 9–10 and with sticky residues of the amnion sac on her scalp her height, weight, and head circumference were <3 percentile according to the Turkish children's normal ranges.[3] She had symmetric intrauterine growth restriction, but no abnormality was detected after the postnatal period other than scalp appearance. She had chorioamniotic membrane separation which was supported by histopathologically. She also had frontal cysist diagnosed by transfontanel ultrasound.

During new born period and 1-year follow-up, she had no other problem and showed a normal development pattern physically and neurologically. She also developed hard, sparse hairs with baseline erythema, and plugs in the hair roots [Figure 1]. She did not have eyelashes or eye brows [Figure 2]. She was consulted by the dermatologist at the age of 12 months and a skin biopsy was advised. Because of the cosmetic solicitude of the parents family rejected at the first line and preferred to wait. four months, later, the parents accepted all further examinations so as to be able to take the precautions and treatments. A punch biopsy of the scalp revealed the keratotic follicular plugging, perifollicular mild to moderate lymphocytic infiltration; perifollicular consentric fibrosis and complete follicular destruction with linear scarring can be seen according to the duration and severity of the disease [Figure 3] and [Figure 4].
Figure 1: She had hard, sparse hairs with baseline erythema, and plugs in the hair roots

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Figure 2: She did not have eyelashes or eye brows

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Figure 3: Follicular plugging with perifollicular and perivascular mild lymphocytic infiltrate (H and E, ×5)

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Figure 4: Destructed hair follicle with remnants of hair shafts surrounded by multinucleated giant cells (H and E, ×5)

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Ophthalmologic examination showed no abnormalities. She had no seizures or symptom of a metabolic disease as well and her tandem mass was normal.

In the genetic consultation, she was found to have no consanguinity of parents, and no other genetic disease was detected in the family. Her chromosome analysis was normal and MBTPS2 gene mutation that may be related to KFSD was also normal.


  Discussion Top


KFSD is an uncommon genodermatosis that is characterized by widespread keratosis pilaris, progressive alopecia of scalp, eyebrows, and eyelashes.[4] There are many sporadic cases, but the most intensive manifestations are found in men suggesting a pattern of X-linked pattern of inheritance. Rare instances of male-male transmission suggested the existence of an autosomal dominant transmission.[1],[3],[4],[5] Compared to the X-linked, autosomal dominant KFSD seems to have a more variable age at the onset ranging from the early infancy to adulthood.[5] The KFSD is reported to have an X-linked inheritance, but there are sporadic cases as well. It may be related to a mutation in MBTPS2.[6],[7]

Phenotypic manifestations of KFSD are usually limited to skin, teeth, and eye. However, a rare findings, including developmental delay, growth retardation, abnormal genitalia, and dysmorphicfacies has been reported.[5]

Treatment of KFSD is difficult. The aim of treatment is stabilization of the alopecia and clinical improvement of the areas that present erythema and pustulas. In that point, we should control the inflammation process. Oral therapy with retinoids appears helpful in the inflammatory stage of KFSD, even though therew is a little improvement in the follicular hyperkeratosis.[8],[9] Topical and intra lesions steroids can reduce the hyperkertosis and inflammation, to a certain extent only.[10]

To the best of our literature search, this report is the youngest case, without any genetic inheritance and also she had a prenatal diagnosis of placental anomalies. In addition, this disease is more common in males, it is very rare in females.[11],[12]

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial Support and Sponsorship

Nil.

Conflicts of Interest

There are no conflicts of interest.

 
  References Top

1.
Siemens HW. Keratosis follicularisspinulosa. Arch Dermatol Syphilol 1926;151:384-7.  Back to cited text no. 1
    
2.
Castori M, Covaciu C, Paradisi M, Zambruno G. Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. Eur J Med Genet 2009;52:53-8.  Back to cited text no. 2
    
3.
Gokcay G, Furman A, Neyzi O. Updated growth curves for Turkish children aged 15 days to 60 months. Child Care Health Dev. 2008;34:454–463.  Back to cited text no. 3
    
4.
Bellet JS, Kaplan AL, Selim MA, Olsen EA. Keratosis follicularis spinulosa decalvans in a family. J Am Acad Dermatol 2008;58:499-502.  Back to cited text no. 4
    
5.
Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, et al. Gene dosage of the spermidine/spermine N (1)-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum Genet 2002;111:235-41.  Back to cited text no. 5
    
6.
Fong K, Wedgeworth EK, Lai-Cheong JE, Tosi I, Mellerio JE, Powell AM, et al.MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. Clin Exp Dermatol 2012;37:631-4.  Back to cited text no. 6
    
7.
Fong K, Takeichi T, Liu L, Pramanik R, Lee J, et al. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2. Clin Exp Dermatol 2015;40:529-32.  Back to cited text no. 7
    
8.
Richard G, Harth W. Keratosis follicularis spinulosa decalvans. Therapy with isotretinoin and etretinate in the inflammatory stage. Hautarzt 1993;44:529-34.  Back to cited text no. 8
    
9.
Alfadley A, Al Hawsawi K, Hainau B, Al Aboud K. Two brothers with keratosis follicularis spinulosa decalvans. J Am Acad Dermatol 2002;47:S275-8.  Back to cited text no. 9
    
10.
Berbert AL, Mantese SA, Rocha A, Cherin CP, Couto CM. Keratosis follicularis spinulosa decalvans: Case report. An Bras Dermatol 2010;85:537-40.  Back to cited text no. 10
    
11.
Maheswari UG, Chaitra V, Mohan SS. Keratosis follicularis spinulosa decalvans: A rare cause of scarring alopecia in two young Indian girls. Int J Trichology 2013;5:29-31.  Back to cited text no. 11
    
12.
Sequeira FF, Jayaseelan E. Keratosis follicularis spinulosa decalvans in a female. Indian J Dermatol Venereol Leprol 2011;77:325-7.  Back to cited text no. 12
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  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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