Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
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 Issue
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 in Response to Previous Publication
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 Images
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
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
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
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
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 Issue
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 in Response to Previous Publication
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 Images
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
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
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
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF

Translate this page into:

Letter to the Editor - Therapy Letter
2015:81:6;646-648
doi: 10.4103/0378-6323.168344
PMID: 26515859

Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin

Divya Gupta1 , Rashmi Kumari1 , Rakesh Kumar Bahunutula1 , Devinder Mohan Thappa1 , Pampa Ch Toi2 , Pradipta Kumar Parida3
1 Department of Dermatology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
2 Department of Pathology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India
3 Department of Otorhinolaryngology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India

Correspondence Address:
Rashmi Kumari
Assistant Professor, Department of Dermatology and STD, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry - 605 006
India
How to cite this article:
Gupta D, Kumari R, Bahunutula RK, Thappa DM, Toi PC, Parida PK. Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin. Indian J Dermatol Venereol Leprol 2015;81:646-648
Copyright: (C)2015 Indian Journal of Dermatology, Venereology, and Leprology

Sir,

Keratosis follicularis spinulosa decalvans is a rare genodermatosis and we were able to find less than fifty previous reports of the condition. We describe two such cases in a family, a mother and her daughter who had ethmoidal and lacrimal sac mucocoeles as well.

A 7-year-old girl, born of a non-consanguineous marriage, presented with multiple follicular lesions over the face and trunk with patchy hair loss over the scalp, eyebrows and eyelashes since the age of three. She also suffered from persistent rhinorrhoea and epiphora from the left eye. There was no photophobia, hearing loss or decreased sweating. She was earlier diagnosed and treated for atopic dermatitis and blepharitis.

Cutaneous examination revealed keratosis pilaris [Figure - 1]a along with scarring alopecia over the vertex [Figure - 1]c and partial loss of eyebrows and eyelashes [Figure - 1]d. The nails, mucosa, palms and soles were unaffected. Oral examination revealed dental caries in all the deciduous molar teeth. Her lower incisors were tapering in shape with gaps between them (diastema). Dermoscopy revealed normal hair shafts with follicular effacement [Figure - 2]a. Histopathology showed hyperkeratosis, acanthosis, follicular plugging, perifollicular inflammatory infiltrate composed predominantly of lymphocytes and mild dermal fibrosis [Figure - 2]b. There was no basal vacuolar change and direct immunofluorescence was negative. Ophthalmological examination revealed telecanthus with regurgitation of mucopurulent discharge through the lacrimal sac punctii. A 99mTc-pertechnetate dacryoscintigraphy revealed proximal left nasolacrimal duct obstruction. A CT scan showed left lacrimal sac and ethmoidal mucocoeles [Figure - 2]c and [Figure - 2]d.

Figure 1: (a) Keratosis pilaris over the extensor aspect of right upper limb. (b) Resolution of keratosis pilaris after 10 months of isotretinoin. (c) Follicular papules with scarring alopecia over the scalp. (d) Thinning of eyebrows and partial loss of eyelashes
Figure 2: (a) Areas of scarring as seen on dermoscopy. (b) Follicular hyperkeratosis, acanthosis with follicular plugging, fibrous stelae and surrounding mononuclear infiltrate (Hematoxylin and Eosin, ×400). (c and d) CT scan showing (c) lacrimal mucocoele and (d) ethmoidal mucocoele

The girl's 35-year-old mother had similar complaints including allergic rhinitis since the age of six. Cutaneous examination revealed keratosis pilaris with extensive cicatricial alopecia involving almost the entire scalp [Figure - 3]a. She had dystrophy of both the great toenails[Figure - 3]b. Oral examination revealed extensive dental caries. Microscopic examination and cultures from the nail were negative for fungi. The males in the family were unaffected.

Figure 3: (a) Extensive scarring alopecia in the mother. (b) Dystrophy of both the great toe nails

A diagnosis of keratosis follicularis spinulosa decalvans was made and the child was started on isotretinoin (0.5 mg/kg/day). She underwent ethmoidectomy and excision of the mucocoeles. There was regression of the keratotic papules within four weeks. Further hair loss and scarring also had stopped. There was no relapse at one year of follow up [Figure - 1]b. The mother did not want any treatment as she had already developed scarring alopecia over 80% of the scalp and used to cover it under a scarf.

Keratosis follicularis spinulosa decalvans was first described by Siemens in 1926. It begins in early childhood. A progressive cicatricial alopecia of the scalp, eyebrows and eyelashes starts in late childhood and remits by adolescence. Ocular abnormalities include photophobia, corneal opacities and blepharitis. Oral manifestations include absent or conoid teeth, dental caries and enamel hypoplasia. Thickened dystrophic nails and high cuticles have been described.[1],[2],[3] Histopathology shows hyperkeratosis and hypergranulosis at the infundibulum and isthmus of the hair follicle, with surrounding polymorphonuclear leukocytes. This is followed by sparse mononuclear cell infiltrate, collagen deposition and follicular destruction.[4]

This condition occurs due to a missense mutation in the MBTPS2 (membrane-bound transcription factor peptidase site 2) gene, which leads to disturbed epidermal differentiation due to inhibition of cholesterol biosynthesis. The adverse impact on epidermal lipid composition results in disturbed barrier function. This leads to increased transepidermal water loss, disturbed cytokine production, epidermal hyperplasia, hyperkeratosis and inflammation, akin to many inherited ichthyoses. This may explain the efficacy of isotretinoin in this disorder. This disorder has an X-linked mode of inheritance and severe clinical manifestations involving only females as in our case may be explained by Lyonization.[2]

Evidence for treatment of keratosis follicularis spinulosa decalvans is anecdotal. Topical keratolytic agents and emollients offer only symptomatic improvement. Antibiotics may be necessary during pustular flares of disease.[4] Oral retinoids are effective in the early phase of disease when active perifollicular infiltrate is present. It must be continued for 6 to 12 months for an optimum response. Retinoids decrease epidermal proliferation and cytokine production thereby reducing hyperkeratosis and inflammation.[5]

Ethmoidal and lacrimal sac mucocoeles may have been a coincidental finding. Atopy and persistent rhinorrhoea may have resulted in mucus secretion which could have blocked the sinus ostium and formed a cyst-like expansile lesion. Unique features about this family include mother to daughter transmission, presence of nail and dental findings, lack of photophobia and no clinical involvement in male members of the family. This condition is uncommon in Asians, and we were able to find only 4 previous reports from India.

References
1.
van Osch LD, Oranje AP, Keukens FM, Voorst Vader van PC, Veldman E. Keratosis follicularis spinulosa decalvans: A family study of seven male cases and six female carriers. J Med Genet 1992;29:36-40.
[Google Scholar]
2.
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.
[Google Scholar]
3.
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]
4.
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.
[Google Scholar]
5.
Richard G, Harth W. Keratosis follicularis spinulosa decalvans. Therapy with isotretinoin and etretinate in the inflammatory stage. Hautarzt 1993;44:529-34.
[Google Scholar]

Fulltext Views
2,512

PDF downloads
504
Show Sections