Generic selectors
Exact matches only
Search in title
Search in content
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF
Net Letter
2018:84:5;645-645
doi: 10.4103/ijdvl.IJDVL_524_16
PMID: 28928337

A rare presentation of keratosis follicularis spinulosa decalvans in female twins

Rishabh Kumar Chauhan, Saumya Sankhwar, Ruchika Tripathi, SS Pandey
 Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Correspondence Address:
Saumya Sankhwar
Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi - 221 005, Uttar Pradesh
India
Published: 28-Aug-2017
How to cite this article:
Chauhan RK, Sankhwar S, Tripathi R, Pandey S S. A rare presentation of keratosis follicularis spinulosa decalvans in female twins. Indian J Dermatol Venereol Leprol 2018;84:645
Copyright: (C)2018 Indian Journal of Dermatology, Venereology, and Leprology

Sir,

A 9-year-old pair of monozygotic twin sisters, born of spontaneous, full-term normal vaginal delivery, visited the dermatology outpatient department of Sir Sunderlal Hospital, Banaras Hindu University, Varanasi, with the absence of body and scalp hair since birth. There was no history of consanguinity in parents. Parents were using various homemade remedies for the condition, on-and-off, including ayurvedic treatment, since 1 year of age. Some hairs appeared on the scalp one year later and they were persistent [Figure - 1] and [Figure - 2]a. Examination revealed small, discrete, spiny papules with follicular plugging, present on normal looking skin on the body [Figure - 2]b. Oral mucosa, teeth, nails, palms and soles were found to be normal. There was no history of photophobia. Ophthalmic examination revealed no abnormal findings. Routine hematological and other laboratory studies were within normal limits. Hair microscopy was done to rule out hair shaft defects.

Figure 1: Female twins with follicular papules and some hair on the scalp
Figure 2

Histopathological examination of the hairy areas such as the scalp and extensor aspect of the left forearm showed sparse superficial perivascular and periappendageal lymphocytic infiltrates with no epidermal changes. Some of the follicular infundibula were dilated and plugged with orthokeratotic corneocytes while others showed mild spongiosis. There was dense perifollicular fibroplasia in some follicles and the terminal follicles were reduced in number on the scalp skin [Figure - 3] and [Figure - 4]. Based on these clinical and histopathological findings, these cases were diagnosed as keratosis follicularis spinulosa decalvans.

Figure 3: Perifollicular fibroplasia and lymphocytic infiltrate (arrowheads) in other fields on scalp histopathology (H and E, ×100)
Figure 4: Dilated follicular infundibula plugged with orthokeratotic corneocytes and perivascular, periappendageal lymphocytic infiltrate on scalp histopathology (H and E, ×400)

Keratosis follicularis spinulosa decalvans is a rare, X-linked, hereditary disorder of keratinization, characterized by the involvement of the skin and eyes. Keratosis follicularis spinulosa decalvans was first described as an X-linked dominant disorder.[1] However, in some cases, an autosomal dominant and sporadic inheritance have also been reported. The term was first used by Siemens in 1926, who described some individuals from a Bavarian family who presented with follicular papules on the face, trunk and extremities with partial loss of hairs; thus, the disease is also known as Siemens syndrome.[1] Genetic studies in Dutch and English families have showed connection with the Xp21.2-p22 gene.[2] When the inheritance pattern is X-linked, males are predominantly affected and females are mostly carriers. Females with severe forms of the disease have also been reported. These cases either had an autosomal dominant pattern of inheritance or some were sporadic in onset. A theory of non-random X-inactivation (process of lyonization) was proposed in cases with sporadic onset.[3] As there is no positive family history and since the disease is rare and present in female twins, our case likely has either an autosomal dominant inheritance or heterogeneous transmission with sporadic inheritance, which is one of the four reported patterns of inheritance in literature.[4] Our patients also had the characteristic cutaneous and histological features of keratosis follicularis spinulosa decalvans. However, there were no other associated abnormalities such as ocular changes, deafness, physical and mental retardation, hypoplastic nails and palmoplantar keratoderma, as described in literature.[3],[4] Moreover, the presence of scarring alopecia on the scalp [Figure - 2]a and the lack of ophthalmological abnormalities differentiate it from ichthyosis follicularis alopecia and photophobia syndrome, where there is nonscarring alopecia and photophobia that presents either at birth, in infancy or in early childhood.[3] Furthermore, in this case, while there was complete alopecia at birth, some hairs appeared on the scalp with time that are still persisting; which helped to differentiate this from the condition- congenital atrichia with papules, where there is permanent and complete alopecia by the first few months of life and no hair regrowth occurs with the passage of time.[5] Clinically, our patients did not have any bony pain or deformities and there was no decreased muscle tone and the levels of alkaline phosphatase, serum calcium and vitamin D were within normal limits, thus ruling out rickets. Other differentials such as lichen spinulosus and lichen planopilaris were excluded on the basis of histopathological findings.

There is no specific treatment for this disorder. However, drugs such as isotretinoin and dapsone have been tried; emollients, topical corticosteroids and keratolytic agents can be used for symptomatic relief.[3] Although it is a rare genodermatosis, keratosis follicularis spinulosa decalvans should always be considered in all cases of hyperkeratosis with alopecia. Genetic counseling is needed in some cases and the treatment should be started as early as possible so as to retard and minimize sequelae such as cicatrization.

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References
1.
Siemens HW. Keratosis follicularis spinulosa decalvans. Arch Derm Syphilol (Berlin) 1926;151:384.
[Google Scholar]
2.
Oosterwijk JC, Nelen M, van Zandvoort PM, van Osch LD, Oranje AP, Wittebol-Post D, et al. Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. Am J Hum Genet 1992;50:801-7.
[Google Scholar]
3.
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.
[Google Scholar]
4.
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.
[Google Scholar]
5.
Yip L, Horev L, Sinclair R, Zlotogorski A. Atrichia with papular lesions: A report of three novel human hairless gene mutations and a revision of diagnostic criteria. Acta Derm Venereol 2008;88:346-9.
[Google Scholar]

Fulltext Views
81

PDF downloads
46
Show Sections