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 Table of Contents  
CASE REPORT
Year : 2017  |  Volume : 15  |  Issue : 3  |  Page : 160-162

Hypotrichosis with keratosis pilaris: a case report and review of literature


1 Department of Dermatology, Venereology and Andrology, Faculty of Medicine, Assiut University, Assiut, Egypt
2 Department of Pathology, Faculty of Medicine, Assiut University, Assiut, Egypt

Date of Submission04-Jul-2017
Date of Acceptance07-Sep-2017
Date of Web Publication22-Feb-2018

Correspondence Address:
Ayman M Mahran
Department of Dermatology, Venereology and Andrology, Faculty of Medicine and Assuit University Hospitals, Assiut University, Assiut
Egypt
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AZMJ.AZMJ_35_17

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  Abstract 


Hypotrichosis or sparse hair is a relatively common feature of several hereditary syndromes. Hypotrichosis with keratosis pilaris is a very rare inborn skin disorder of unknown etiology. Here we report a rare case of hypotrichosis with keratosis pilaris in a 7-year-old boy. To the best of our knowledge, this is the first case to be reported from Egypt. The clinicopathological features were presented and the relevant literature was addressed.

Keywords: hypotrichosis, hypotrichosis with keratosis pilaris, keratosis pilaris


How to cite this article:
Mahran AM, Badran AY, Ahmad AM, Hussein MR. Hypotrichosis with keratosis pilaris: a case report and review of literature. Al-Azhar Assiut Med J 2017;15:160-2

How to cite this URL:
Mahran AM, Badran AY, Ahmad AM, Hussein MR. Hypotrichosis with keratosis pilaris: a case report and review of literature. Al-Azhar Assiut Med J [serial online] 2017 [cited 2018 Nov 18];15:160-2. Available from: http://www.azmj.eg.net/text.asp?2017/15/3/160/226049




  Introduction Top


Hypotrichosis with keratosis pilaris (HTKP) is an extremely rare skin disorder of unknown etiology. Patients present with sparse, short, and brittle hair, in association with keratosis pilaris [1]. The hair is apparently normal at birth, but after shedding of the birth coat it fails to grow and becomes sparse, short, brittle, and poorly pigmented. Eyebrows and eyelashes may be normal or sparse. The hair shows no structural abnormality [2]. Hair brittleness was suggested to result from alterations of the fibrous protein composition of the hair. Keratosis pilaris usually manifests on the scalp, neck, and sometimes on the trunk and limbs. Nails, teeth, and general physical development are normal [1].


  Case report Top


A 7-year-old boy presented with the absence of scalp hair, eyebrows, and eyelashes, as well as multiple asymptomatic papular skin lesions all over the scalp ([Figure 1]). Scalp hair was sparse at birth, but started progressively falling at the age of 3 months. The eyebrows and eyelashes have never grown. Scalp papular lesions were small and unnoticeable at birth, but progressively increased in size and number overtime. No other cutaneous lesions or systemic complaints were noted. There was no history of drug intake or family history of a similar condition. The patient was born following consanguineous marriage and uneventful pregnancy and labor. General examination was unremarkable. No evidence of any systemic disorder could be identified. Laboratory investigations (complete blood picture, liver, and renal function tests) were normal. Dermatological examination revealed sparse short brittle poorly pigmented hair all over the scalp without scarring. The hair of the eyebrows and eyelashes was completely absent. Multiple scaly skin-colored papular lesions (keratosis pilaris) were noted all over the scalp ([Figure 1]). The teeth and nails were normal. Punch skin biopsy from the scalp revealed that the epidermis shows mild acanthosis with subtle basal vaculopathy. Within the dermis, there is perivascular and perifollicular patchy predominantly lymphocytic infiltrate. Loss of some hair follicles and dermal fibrosis were noted ([Figure 2]). A crusted area can be noticed in place of the biopsy. The diagnosis of HTKP was established on the basis of the clinicopathological findings.
Figure 1 (a,b) Dermatological examination revealed sparse short brittle poorly pigmented hair all over the scalp but without scarring. The hair of the eyebrows and eyelashes was completely absent. The popular eruption was also noted on the scalp.

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Figure 2 (a,b) Histopathology: the epidermis shows mild acanthosis. Within the dermis, there is perivascular and patchy predominantly lymphocytic infiltrate. Some lymphocytic infiltrate is also noted about the hair follicles (hematoxylin–eosin stain, original magnification, ×100 and ×400, respectively).

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  Discussion Top


Here we present a case of HTKP in a 7-year-old boy. To the best of our knowledge, occasional cases of HTKP were reported to date [1],[3], and this is the first reported case from Egypt. The differential diagnosis in our case revolves around HTKP, keratosis follicularis spinulosa decalvans, HTKP and lentiginosis, and atrichia with papular lesions (APL).

Keratosis follicularis spinulosa decalvans is a rare genetic disorder with X-linked and autosomal dominant pattern of inheritance [4],[5]. The condition is characterized by follicular hyperkeratosis and scarring alopecia. Follicular hyperkeratosis begins during infancy or early childhood, first on the face, affecting the eyebrows, cheeks, forehead, and nose. Scarring alopecia of scalp and eyebrows begins in early childhood and progresses further. Other associated features include palmoplantar keratoderma, corneal dystrophy with photophobia, and high periungal cuticles [6].

HTKP and lentiginosis is characterized by progressive hypotrichosis at or just immediately after puberty, absence of axillary and pubic hair, and keratosis pilaris of scalp and axillae. In addition, there is brittleness and longitudinal striations of the nails with centrofacial lentiginosis [2].

APL is an autosomal recessive disorder of irreversible alopecia of the scalp and body associated with papular keratin cysts on the body. Patients suffer no systemic manifestations. APL is caused by mutation of the human hairless gene. Histopathology shows mid-dermal keratin cysts with sparse perifollicular lymphocytic infiltrate [7],[8].In fact, there are many genetic syndromes that may present with HTKP or follicular hyperkeratosis, but their additional distinctive cutaneous and systemic features were enough to rule them out from the differential diagnosis of our case − e.g. Down’s syndrome, Noonan’s syndrome, Conradi–Hunnerman syndrome, trichodental syndrome, Schopf–Schulz–Passarge syndrome, Pachyonychia congenita, keratitis ichthyosis deafness syndrome, and monilethrix.

To the best of our knowledge, this case of HTKP is the first reported case from Egypt. In our case, we propose that the histopathological presence of dermal fibrosis may, in part, explain the hypotrichosis in HTKP to be of a microscopic cicatricial nature. In addition, and as in alopecia areata, we offer an immunological theory as an explanation because of the presence of the lymphocytic infiltrate, especially around hair follicles. In addition, history of consanguineous marriage suggests an autosomal recessive mode of inheritance to this extremely rare case. We do recommend future detailed genetic and hair ultrastructural studies on this rare disorder in order to give the dermatologic community more detailed clues about the etiology and, hence, the management of such an extremely rare condition.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Dekio S, Nagashima T, Watanabe Y, Jidoi J. Hypotrichosis with keratosis pilaris: electrophoretical study of hair fibrous proteins from a patient. Dermatologica 1989; 179:118–122.  Back to cited text no. 1
    
2.
Greither A. On 3 generations of congenital keratosis follicularis with alopecia, hyperhidrosis and abortive palmar-plantar keratoses limited to women and its relation to congenital hereditary hypotrichosis. Arch Klin Exp Dermatol 1960; 210:123–140.  Back to cited text no. 2
    
3.
Bloom D. A case for diagnosis (congenital hypotrichosis and keratosis pilaris?). Arch Derm Syphilol 1947; 56:278.  Back to cited text no. 3
    
4.
Domenech P, Ferrando J, Corretger M, Torras H, Valls X, Gonzalez A. Keratosis follicularis spinulosa decalvans (Siemens’ syndrome) associated with other abnormalities. Med Cutan Ibero Lat Am 1985; 13:175–181.  Back to cited text no. 4
    
5.
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; 37:631–634.  Back to cited text no. 5
    
6.
Ross EK, Tan E, Shapiro J. Update on primary cicatricial alopecias. J Am Acad Dermatol 2005; 53:1–37.  Back to cited text no. 6
    
7.
Azeem Z, Wasif N, Basit S, Razak S, Waheed R, Islam A et al. Congenital atrichia with papular lesions resulting from novel mutaions in human hairless gene. J Dermatol 2011; 38:755–760.  Back to cited text no. 7
    
8.
Reza R, Farhanaz B, Safouri S, Maryam R. Unusual presentation of atrichia with papular lesions. Indian J Dermatol 2015; 60:107.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2]



 

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