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CASE REPORT
Year : 2020  |  Volume : 21  |  Issue : 2  |  Page : 138-141

Keratosis follicularis spinulosa decalvans: A dermoscopic perspective


Department of DVL, Government Medical College, Nizamabad, Telangana, India

Date of Submission30-Dec-2019
Date of Decision25-Feb-2020
Date of Acceptance13-Feb-2020
Date of Web Publication01-Apr-2020

Correspondence Address:
Sudharani Chintagunta
Plot No. #5, Jupiter Colony, Kakaguda, Kharkhana, Secunderabad, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_133_19

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  Abstract 


Keratosis follicularis spinulosa decalvans (KFSD) is a rare follicular disorder characterized by widespread keratosis pilaris and progressive scarring alopecia of the scalp, eyebrows, and axillae. This condition is sometimes associated with photophobia and keratoderma. This is X-linked genodermatoses predominantly seen in males. It is unusual in females as they are carriers or have milder symptoms. Here, we report a dermoscopic perspective of this rare presentation of KFSD in an 11-year-old female.

Keywords: Alopecia, dermoscopy, follicular papules, histopathology


How to cite this article:
Chintagunta S, Jaju P. Keratosis follicularis spinulosa decalvans: A dermoscopic perspective. Indian J Paediatr Dermatol 2020;21:138-41

How to cite this URL:
Chintagunta S, Jaju P. Keratosis follicularis spinulosa decalvans: A dermoscopic perspective. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Jun 1];21:138-41. Available from: http://www.ijpd.in/text.asp?2020/21/2/138/281728




  Introduction Top


Keratosis pilaris atrophicans (KPA) is a more inflammatory form of Keratosis pilaris, which results in follicular fibrosis and atrophy progressing to scarring alopecia.[1] It includes KPA faciei (KPAF), atrophoderma vermiculata, and keratosis follicularis spinulosa decalvans (KFSD). KFSD is a rare disorder of the hair follicles with scarring alopecia and follicular papules affecting the scalp and other areas of the body. It usually follows an X-linked pattern of inheritance predominantly affecting males, but sporadic and autosomal dominant cases also reported. Not many cases of KFSD have been recorded in the Indian literature and is unusual in females as they are carriers or have milder symptoms. We report an 11 year female child with KFSD which showed characteristic features on dermoscopy and histopathology.


  Case Report Top


An 11-year-old girl born from a nonconsanguinous marriage, presented with rough skin over the body for 8 years of age and loss of hair over the scalp and eyebrows for 6 years of age. Her parents noted lesions earlier on the scalp, which gradually involved the body and eventually resulting in hair loss, over the next 3–4 years.

Cutaneous examination revealed multiple follicular skin-colored to red, horny papules all over the body more on the scalp, extensor aspect of limbs, and trunk. Areas of atrophic scarring and alopecia present on the frontal, parietal, and occipital region with sparing of scalp margins [Figure 1] and [Figure 2]a, [Figure 2]b. There is evidence of sparse hair on the eyebrows, more on lateral one-third of eyebrows. Ophthalmic examination revealed no abnormal findings. No dental or nail deformities and no evidence of palmoplantar keratoderma were noted. Systemic and general examination revealed no abnormal findings.
Figure 1: Multiple, follicular, tiny, erythematous, keratotic papules with scarring alopecia of the scalp, and lateral one-third of eyebrows in front view

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Figure 2: Multiple, follicular papules on cheeks (a), and nape of the neck (b)

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Polarized dermoscopy from scalp revealed a faint reddish-light brown background with hairs emerging in groups of 2–3 with focal peripilar casts. The presence of interfollicular honeycomb pigmentation here indicates sun exposure. Multiple, large, irregular, white dots representing perifollicular fibrosis, and smaller white dots representing empty hair follicles or eccrine glands were seen. Dermoscopy from the outer arm showed twisted hairs forming loops and irregular coils with perifollicular erythema [Figure 3] and [Figure 4].
Figure 3: Dermoscopy from scalp shows peripilar casts (black arrow) with significant perifollicular fibrosis (red arrow) on an erythematous background

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Figure 4: Dermoscopy of skin over the lateral arm shows multiple twisted hairs forming loops and irregular coils (blue circle), white empty follicular areas (black arrow), and perifollicular erythema

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Biopsy from the scalp showed orthokeratosis, follicular plugging in the epidermis with mild acanthosis [Figure 5] and [Figure 6]. Dermis is decreased in thickness with perifollicular fibrosis, and mild perivascular inflammatory infiltrate. The hair shafts appeared protruded.
Figure 5: Hyperkeratosis, parakeratosis, acanthosis, and follicular plugging in the epidermis and dense dermal lymphocytic infiltration (H and E, ×10)

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Figure 6: Perifollicular inflammatory infiltrate in the dermis (H and E, ×20)

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Based on clinical features, dermoscopy, and histopathology, a diagnosis of KFSD was made.


  Discussion Top


KFSD (OMIM 308800) is a rare X-linked disorder of the hair follicle mapped to chromosome Xp 22.13-p 22.2. This condition is common in males, with females being carriers showing no disease or only mild forms. The process of lyonization (nonrandom X inactivation) may explain the expression of KFSD in women. However, cases have also reported in families suggesting autosomal dominant inheritance.[1]

The condition begins in infancy or early childhood as noninflammatory flesh-colored, spiny papules affecting hair-bearing areas, especially the scalp and later progressing to eyebrows and eyelashes. In due course, proximal limbs and even the trunk become involved may progress till puberty. The involvement of axillary and pubic hair is also described. The exact mechanism of alopecia is unknown. It could be keratinization and follicular destruction associated with inflammation in the hair follicles.[2],[3]

KFSD occurs due to a missense mutation in the membrane-bound transcription factor peptidase site 2 gene.[4] This gene cleaves sterol regulatory element-binding proteins (SREBPs). Altered SREBP cleavage impairs cholesterol and lipid homeostasis resulting in defective epidermal differentiation. This causes epidermal hyperplasia, hyperkeratosis, and inflammation.

KFSD is usually associated with variable facial erythema, ocular abnormalities, nail dystrophy, and palmoplantar keratoderma. Other rare associations include Olmsted syndrome, Noonan syndrome, deafness, aminoaciduria, cutis laxa, and acne keloidalis nuchae.

The most common occular manifestation is photophobia. Other abnormalities include conjunctivitis, punctate keratitis, congenital glaucoma, cataract, and retinal detachment.[5]

Oral manifestations include absent or conoid teeth, dental caries, and enamel hypoplasia.

Differential diagnoses include ichthyosis follicularis alopecia photophobia (IFAP) syndrome and Graham-Little-Piccardi-Lasseur syndrome (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.[6]

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 Lichen planus pigmentosus (LPP) show the reduced number of follicular openings, perifollicular white dots, crystalline white structures, perifollicular blue-gray speckles, peritubular white casts, and perifollicular erythema.[7]

Characteristic presence of blue-gray speckles suggests pigment incontinence, which helps in differentiating LPP from KFSD.

Treatment of KFSD is usually unsatisfactory. Topical treatment includes keratolytics, emollients, and topical steroids. Systemic retinoids such as isotretinoin and etretinate are beneficial in the early stages of the disease as they downregulate follicular hyperkeratosis and inflammation.[8]

Other treatments include antibiotics and intralesional steroids. Hair growth, slight improvement with minoxidil is reported. Hair reduction lasers found to be useful in progressive or recalcitrant KFSD.[9]

Females act as carriers and have mild forms of disease or no disease manifestations. This patient developed lesions at late childhood with extensive involvement of trunk, extremities, and progressive scarring alopecia, which is uncommon in females.

In this patient, dermoscopic examination of scalp and body lesions showed characteristic features. This noninvasive modality aided the diagnosis before confirmation by histopathology.


  Conclusion Top


Very few cases of KFSD have been reported in the Indian literature, especially in females. Apart from histopathology, dermoscopy also helps in establishing the diagnosis and is preferable in children being noninvasive procedure.

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 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.
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. 1
[PUBMED]  [Full text]  
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.
van Osch LD, Oranje AP, Keukens FM, van Voorst Vader 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.  Back to cited text no. 3
    
4.
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. 4
    
5.
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. 5
    
6.
Sellheyer K, Bergfeld WF. Histopathologic evaluation of alopecias. Am J Dermatopathol 2006;28:236-59.  Back to cited text no. 6
    
7.
Duque-Estrada B, Tamler C, Sodré CT, Barcaui CB, Pereira FB. Dermoscopy patterns of cicatricial alopecia resulting from discoid lupus erythematosus and lichen planopilaris. An Bras Dermatol 2010;85:179-83.  Back to cited text no. 7
    
8.
Richard G, Harth W. Keratosis follicularis spinulosa decalvans. Therapy with isotretinoin and etretinate in the inflammatory stage. Hautarzt 1993;44:529-34.  Back to cited text no. 8
    
9.
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. 9
    


    Figures

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



 

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