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CASE REPORT
Year : 2015  |  Volume : 7  |  Issue : 3  |  Page : 125-128  

Keratosis follicularis spinulosa decalvans: A report of three cases


Department of Dermatology, Venereology and Leprology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Date of Web Publication19-Oct-2015

Correspondence Address:
Dipali D Malvankar
D4, Landmark CHS, St. Anthony's Street, Vakola, Santacruz East, Mumbai - 400 055, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-7753.167461

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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.

Keywords: Atrophic keratosis pilaris, keratosis follicularis spinulosa decalvans, scarring alopecia


How to cite this article:
Malvankar DD, Sacchidanand S. Keratosis follicularis spinulosa decalvans: A report of three cases. Int J Trichol 2015;7:125-8

How to cite this URL:
Malvankar DD, Sacchidanand S. Keratosis follicularis spinulosa decalvans: A report of three cases. Int J Trichol [serial online] 2015 [cited 2019 Nov 21];7:125-8. Available from: http://www.ijtrichology.com/text.asp?2015/7/3/125/167461




   Introduction Top


Keratosis follicularis spinulosa decalvans (KFSD) is a hereditary disorder of the hair follicle which presents with scarring alopecia and follicular papules affecting the scalp and other areas of the body. It usually follows an X-linked pattern of inheritance, but sporadic and autosomal dominant cases can also be seen.


   Case Reports Top


Our first case was an 18-year-old female who complained of progressive hair loss over the scalp since 10 years and over the eyebrows since 5 years. She gave no history of similar complaints in her family. On examination of the scalp, she had multiple patches of cicatricial alopecia with sparse hair in the frontal, parietal, and temporal areas of the scalp. Sparse hair over the eyebrows, eyelashes, axillae, and pubic area were noted [Figure 1]. She also had generalized dry skin and multiple follicular papules over upper and lower limbs and buttocks [Figure 2].
Figure 1: Follicular papules and alopecia seen over the scalp along with sparse eyebrows and eyelashes

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Figure 2: Follicular keratotic papules over dorsum of hand

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Our second case was a 26-year-old male with decreased hair growth over scalp and body. He had no family history of similar complaints. On examination, he had diffuse alopecia of the scalp with sparse hair over eyebrows, eyelashes, and beard area. Multiple keratotic papules were noted over the scalp, upper limbs, and abdomen [Figure 3 and [Figure 4].
Figure 3: Sparse hair and papular lesions noted over the scalp

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Figure 4: Follicular papules seen over abdomen

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The third case was a 23-year-old male with complaints of decreased hair over scalp and body with skin lesions over the trunk. He gave a history of similar but milder complaints being present in his younger brother suggesting X-linked inheritance. On examination, he had alopecia over the crown area of the scalp [Figure 5], with sparse hair over the eyebrows and axillae, multiple follicular papules over the trunk and all four limbs. He also had associated palmoplantar keratoderma and nail dystrophy [Figure 6].
Figure 5: Scarring alopecia seen over scalp

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Figure 6: Plantar keratoderma seen over the foot

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Scalp biopsies from all three cases showed variable amounts of acanthosis and papillomatosis and dilated hair follicles filled with keratin plugs and entrapped hair shafts [Figure 7 and [Figure 8]. Dermis showed periadnexal mononuclear infiltrate. With clinicopathological correlation, they were diagnosed to have KFSD.
Figure 7: Dilated follicular infundibulum filled with keratin plug (H and E, ×40)

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Figure 8: Entrapped hair shafts within hair follicle (H and E, ×40)

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   Discussion Top


Keratosis pilaris atrophicans (KPA) is a group of cutaneous disorders which are characterized by follicular hyperkeratosis along with scarring. The following three disorders are considered to comprise the spectrum of KPA.[1]

  • KFSD
  • KPA faciei (KPAF) or ulerythema ophryogenes
  • Atrophoderma vermiculatum.


KFSD (OMIM 308800) is a rare X-linked disorder of the hair follicle. The term was first used by Siemens [2] in 1926 when he reported the disorder in a Bavarian family.

The locus of mutation has been localized to Xp22.13–22.2.[3] The candidate gene suggested is the membrane-bound transcription factor protease site 2 (MBTPS2) 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.[4]

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.[5]

The age of onset is early in life with keratotic papules appearing initially on the face and later on the trunk and limbs.[5] As the disease progresses, cicatricial alopecia ensues on the scalp, eyebrows, and eyelashes along with the loss of hair in axillary and pubic areas.[6]

Some patients have associated photophobia and palmoplantar keratoderma. Other associations reported include woolly hair [7] and acne keloidalis nuchae with tufted folliculitis.[8]

The most important differential diagnoses include ichthyosis follicularis alopecia photophobia (IFAP) syndrome and Graham Little Piccardi Lasseur syndrome (GLPLS).

IFAP syndrome is an allelic disorder, being genotypically and phenotypically similar to KFSD. Thus, both represent a different phenotypic manifestation of the same mutation. Both are caused by the mutation in the MBTPS2 gene.[9] Clinically, both disorders present with alopecia and follicular hyperkeratosis. However, the alopecia in IFAP syndrome is of the nonscarring type while that in KFSD is scarring. Furthermore, ocular features like photophobia and corneal dystrophy are essential for the diagnosis of IFAP.[1]

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 spinous papules over a body. The distinction from KFSD is made mainly on histopathology which reveals changes suggestive of lichen planus including vacuolar degeneration and interface dermatitis.[10]

Treatment of KFSD is usually unsatisfactory. Topical treatment comprises mainly of keratolytics and emollients. Systemic retinoids like isotretinoin and etretinate are beneficial in the early stages of the disease as they downregulate follicular hyperkeratosis and inflammation.[6] Dapsone was found to be useful due to its inhibition of leukocyte chemotaxis and stabilization of lysosomal enzymes.[11] Other treatments tried include antibiotics, intralesional and topical steroids. Hair reduction lasers have also been tried.[12]

Acknowledgment

We would like to acknowledge the Department of Pathology, Bangalore Medical College and Research Institute, Bengaluru.

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.
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. 1
    
2.
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. 2
    
3.
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. 3
    
4.
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. 4
    
5.
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. 5
    
6.
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. 6
[PUBMED]  Medknow Journal  
7.
Lacarrubba F, Dall'Oglio F, Rossi A, Schwartz RA, Micali G. Familial keratosis follicularis spinulosa decalvans associated with woolly hair. Int J Dermatol 2007;46:840-3.  Back to cited text no. 7
    
8.
Janjua SA, Iftikhar N, Pastar Z, Hosler GA. Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. Am J Clin Dermatol 2008;9:137-40.  Back to cited text no. 8
    
9.
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. 9
    
10.
Brar B, Khanna E, Mahajan BB. Graham little piccardi lasseur syndrome: A rare case report with concomitant hypertrophic lichen planus. Int J Trichology 2013;5:199-200.  Back to cited text no. 10
    
11.
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. 11
    
12.
Chui CT, Berger TG, Price VH, Zachary CB. Recalcitrant scarring follicular disorders treated by laser-assisted hair removal: A preliminary report. Dermatol Surg 1999;25:34-7.  Back to cited text no. 12
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]



 

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