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ONLINE ONLY ARTICLES - LETTERS TO EDITOR
Year : 2022  |  Volume : 6  |  Issue : 1  |  Page : 58

A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child


1 Department of Dermatology and Venereology, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
2 Department of Dermatology and Venereology, The Oxford Medical College Hospital and Research Centre, Bengaluru, Karnataka, India

Date of Submission01-Mar-2021
Date of Decision15-Aug-2021
Date of Acceptance27-Aug-2021
Date of Web Publication25-Feb-2022

Correspondence Address:
Chandramohan Kudligi
Department of Dermatology and Venereology, Karnataka Institute of Medical Sciences, Hubli, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/cdr.cdr_17_21

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How to cite this article:
Prasad VS, Chavan RL, Ramachandra Tjejaswi SS, Basavaraju J, Kudligi C, Bhagwat PV. A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child. Clin Dermatol Rev 2022;6:58

How to cite this URL:
Prasad VS, Chavan RL, Ramachandra Tjejaswi SS, Basavaraju J, Kudligi C, Bhagwat PV. A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child. Clin Dermatol Rev [serial online] 2022 [cited 2022 Sep 25];6:58. Available from: https://www.cdriadvlkn.org/text.asp?2022/6/1/58/338590



Sir,

A 10-year-old girl born out of second-degree consanguineous marriage visited our outpatient department with complaints of absence of hair in the scalp and rest of the body since birth. Her parents also gave a history of noticing generalized roughness of her skin with multiple raised skin colored papules predominantly over the scalp and eyebrows followed by gradual hair growth in the past 2 years. There was no history suggestive of photophobia. There were no similar complaints in any of the family members. Physical examination disclosed multiple follicular-oriented flesh colored honry papules over the scalp and eyebrows [Figure 1] and [Figure 2]. She also had generalized xerosis and multiple follicular papules with fine keratotic plugging over both upper limbs and lower limbs. A closer view of scalp, cheeks, and eyebrows revealed fine scaling and areas of scarring alopecia and hair loss predominantly over lateral one-third of eyebrows and axillae [Figure 3]. The teeth, nails, palms, and soles were unaffected. She also had an associated ear polyp which was noticed after thorough ENT examination. Ophthalmic examination did not reveal any abnormal findings. Based on history and cutaneous examination findings, keratosis follicularis spinulosa decalvans (KFSD), atrichia with papular lesions, ichthyosis follicularis, alopecia and photophobia syndrome (IFAP), and GrahamLittlePiccardiLasseur syndrome (GLPL) were considered as differential diagnosis. Punch biopsy specimen sent for histopathological examination revealed mild acanthosis and follicular plugging in the epidermis and mild perifollicular fibrosis with perivascular and periadnexal sparse lymphocytic infiltrate in the dermis [Figure 4], confirming the clinical diagnosis of KFSD. The patient was advised to apply topical clobetasol 0.05% lotion once daily on the affected area without any significant improvement even after 3 months.
Figure 1: Follicular papules over the scalp

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Figure 2: Follicular papules over the scalp (close-up view)

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Figure 3: Scarring alopecia over lateral one-third of eyebrows

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Figure 4: Photomicrograph showing follicular plugging and mild perifollicular fibrosis (H and E, ×40)

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KFSD is a rare condition predominantly affecting males characterized by diffuse keratosis pilaris with a scarring alopecia of the scalp and associated photophobia, facial erythema, and palmoplantar keratoderma.[1]

The locus of mutation of KFSD has been localized to Xp22.[2] The candidate gene suggested is the membrane-bound transcription factor protease site 2 gene 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.[3]

Males are more commonly and severely affected than female heterozygotes in families having an X-linked inheritance pattern. However, some cases can be sporadic or be autosomal dominantly inherited.[1] KFSD has been described in association with various conditions including cutis laxa, “big pinnae,” clinodactyly, arachnodactyly, Noonan's syndrome, deafness, aminoaciduria, mental retardation, Down's syndrome, congenital glaucoma, lenticular cataract, hepatomegaly, and bilateral inguinal hernia;[4],[5],[6],[7],[8] a greater propensity to recurrent systemic bacterial infections has also been reported.[9] Differential diagnoses include IFAP syndrome and GLPLS. IFAP syndrome is characterized by ichthyosis follicularis, alopecia, photophobia, and corneal dystrophy. Clinically, both disorders present with alopecia and follicular hyperkeratosis. However, the IFAP syndrome presents with nonscarring alopecia while KFSD presents with scarring alopecia. Histopathology is nonspecific and consists of dilated hair follicles with keratin plugs.[10] GLPLS is a variant of lichen planopilaris which presents with scarring alopecia of the scalp, nonscarring alopecia of axillae, and pubic region and keratotic follicular papules on the body, scalp, or both. Histopathology reveals vacuolar degeneration, melanin incontinence, and interface dermatitis.

Dermoscopic features of KFSD are multiple, large, irregular, white dots representing perifollicular fibrosis, smaller white dots representing empty hair follicles or eccrine glands, and twisted hairs forming loops and irregular coils with perifollicular erythema.[11] The prognosis in KFSD is one of steady follicular obliteration at the site of the inflammatory papules, with a continual extension of the scalp alopecia. Numerous treatments have been utilized including topical and intralesional corticosteroids, topical and systemic antibiotics, dapsone, and systemic retinoids.[8] Topical and intralesional corticosteroids may produce transient abatement of erythema. Dapsone therapy resulted in resolution of inflammation in one case.[12] Despite the presence of follicular hyperkeratosis in the pathophysiology of this disease, the results with systemic retinoid therapies have been unsatisfactory. Systemic isotretinoin therapy at a dosage of 1 mg/kg for 4 months caused slight to no improvement in three patients with KFSD and was associated with flaring of inflammation as well in one patient.[13],[14] Recurrences are frequent upon termination of any therapy that provides temporary relief. Unfortunately, no treatment has produced uniformly successful results.

Our patient developed alopecia and papular lesions since birth and we report this case for its rarity. Very few cases of KFSD have been recorded in the Indian literature and are unusual in females as they are carriers or have milder symptoms.

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 initial s 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.
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. 1
    
2.
Porteous ME, Strain L, Logie LJ, Herd RM, Benton EC. Keratosis follicularis spinulosa decalvans: Confirmation of linkage to Xp22.13-p22.2. J Med Genet 1998;35:336-7.  Back to cited text no. 2
    
3.
Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, et al. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. Hum Mutat 2010;31:1125-33.  Back to cited text no. 3
    
4.
Rand R, Baden HP. Keratosis follicularis spinulosa decalvans. Report of two cases and literature review. Arch Dermatol 1983;119:22-6.  Back to cited text no. 4
    
5.
Callaway SR, Lesher JL Jr. Keratosis pilaris atrophicans: Case series and review. Pediatr Dermatol 2004;21:14-7.  Back to cited text no. 5
    
6.
Puppin D, Aractingi S, Dubertret L, Blanchet-Bardon C. Keratosis follicularis spinulosa decalvans: Report of a case with ultrastructural study and unsuccessful trial of retinoids. Dermatology 1992;184:133-6.  Back to cited text no. 6
    
7.
Herd RM, Benton EC. Keratosis follicularis spinulosa decalvans: Report of a new pedigree. Br J Dermatol 1996;134:138-42.  Back to cited text no. 7
    
8.
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. 8
    
9.
Britton H, Lustig J, Thompson BJ, Meyer S, Esterly NB. Keratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections. Arch Dermatol 1978;114:761-4.  Back to cited text no. 9
    
10.
Sellheyer K, Bergfeld WF. Histopathologic evaluation of alopecias. Am J Dermatopathol 2006;28:236-59.  Back to cited text no. 10
    
11.
Chintagunta S, Jaju P. Keratosis follicularis spinulosa decalvans: A dermoscopic perspective. Indian J Paediatr Dermatol 2020;21:138-41.  Back to cited text no. 11
  [Full text]  
12.
Kunte C, Loeser C, Wolff H. Folliculitis spinulosa decalvans: Successful therapy with dapsone. J Am Acad Dermatol 1998;39:891-3.  Back to cited text no. 12
    
13.
Baden HP, Byers HR. Clinical findings, cutaneous pathology, and response to therapy in 21 patients with keratosis pilaris atrophicans. Arch Dermatol 1994;130:469-75.  Back to cited text no. 13
    
14.
Hallai N, Thompson I, Williams P, Anstey AV. Folliculitis spinulosa decalvans: Failure to respond to oral isotretinoin. J Eur Acad Dermatol Venereol 2006;20:223-4.  Back to cited text no. 14
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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