Al-Azhar Assiut Medical Journal

: 2017  |  Volume : 15  |  Issue : 3  |  Page : 160--162

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

Ayman M Mahran1, Aya Y Badran1, Asmaa M Ahmad2, Mahmoud R Hussein2,  
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

Correspondence Address:
Ayman M Mahran
Department of Dermatology, Venereology and Andrology, Faculty of Medicine and Assuit University Hospitals, Assiut University, Assiut


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.

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;15:160-162

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 2020 Jul 11 ];15:160-162
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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

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}{Figure 2}


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.

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Conflicts of interest

There are no conflicts of interest.


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