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      Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases

      case-report

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          Abstract

          Keratosis follicularis spinulosa decalvans is a disorder affecting the hair follicles characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. Being X-linked, it is more commonly seen in males but can be rarely seen in females also. We report three cases of this rare disorder including one in a female.

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          Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

          Virginia Sybert, Emmelien Aten, Anna I Hooijkaas … (2010)
          Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder characterized by development of hyperkeratotic follicular papules on the scalp followed by progressive alopecia of the scalp, eyelashes, and eyebrows. Associated eye findings include photophobia in childhood and corneal dystrophy. Due to the genetic and clinical heterogeneity of similar disorders, a definitive diagnosis of KFSD is often challenging. Toward identification of the causative gene we reanalyzed a large Dutch KFSD family. SNP arrays (1 M) redefined the locus to a 2.9-Mb region at Xp22.12-Xp22.11. Screening of all 14 genes in the candidate region identified MBTPS2 as the candidate gene carrying a c.1523A>G (p.Asn508Ser) missense mutation. The variant was also identified in two unrelated X-linked KFSD families and cosegregated with KFSD in all families. In symptomatic female carriers, skewed X-inactivation of the normal allele matched with increased severity of symptoms. MBTPS2 is required for cleavage of sterol regulatory element-binding proteins (SREBPs). In vitro functional expression studies of the c.1523A>G mutation showed that sterol responsiveness was reduced by half. Other missense mutations in MBTPS2 have recently been identified in patients with IFAP syndrome. We postulate that both phenotypes are in the spectrum of one genetic disorder with a partially overlapping phenotype. Hum Mutat 31:1125-1133, 2010. © 2010 Wiley-Liss, Inc.
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            Folliculitis spinulosa decalvans: Successful therapy with dapsone

            C Kunte, C Loeser, H. Wolff (1998)
            A 27-year-old male patient presented with scaly erythema and crusts on the scalp. Since birth, he suffered from dry skin and inflammation of the eyelids. Scarring alopecia was noticed in some regions of his scalp. Folliculitis spinulosa decalvans was diagnosed. Therapy with isotretinoin and topical corticosteroids was without effect. In contrast, 100 mg of Dapsone per day led to resolution of the inflammatory signs. This enabled him to cover the disfiguring scarring alopecia with a permanent hairpiece. His condition has been stable after 18 months without the enlargement of the scarred alopecic areas.
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              Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.

              M E M Porteous, L Strain, L J Logie … (1998)
              Keratosis follicularis spinulosa decalvans (KFSD) is a rare, X linked disorder with skin and eye involvement (MIM 308800). We have studied a large British family with KFSD using polymorphic markers from Xp21-p23 and obtained a lod score of 2.056 at theta=0 with markers proximal and distal to the KFSD candidate region Xp22.13-p22.2 identified by Oosterwijk et al. Our data confirm the linkage to Xp22.13-p22.2 observed in the previously reported Dutch family, but fail to narrow the candidate interval for the KFSD locus.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Trichology
                Journal ID (iso-abbrev): Int J Trichology
                Journal ID (publisher-id): IJT
                Title: International Journal of Trichology
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0974-7753
                ISSN (Electronic): 0974-9241
                Publication date (Print): Jul-Sep 2015
                Volume: 7
                Issue: 3
                Pages: 125-128
                Affiliations
                [1]Department of Dermatology, Venereology and Leprology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
                Author notes
                Address for correspondence: Dr. Dipali D Malvankar, D4, Landmark CHS, St. Anthony's Street, Vakola, Santacruz East, Mumbai - 400 055, Maharashtra, India. E-mail: Dipsdips04@ 123456gmail.com
                Article
                Publisher ID: IJT-7-125
                DOI: 10.4103/0974-7753.167461
                PMC ID: 4639957
                PubMed ID: 26622157
                SO-VID: 9faf41d1-fb16-4d32-acdd-80ff90c81f4a
                Copyright © Copyright: © International Journal of Trichology
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

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                Categories
                Subject: Case Report

                ScienceOpen disciplines: Dermatology
                Keywords: atrophic keratosis pilaris,keratosis follicularis spinulosa decalvans,scarring alopecia
                Data availability:
                ScienceOpen disciplines: Dermatology
                Keywords: atrophic keratosis pilaris, keratosis follicularis spinulosa decalvans, scarring alopecia

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