Table of Contents

2013 Month : April Volume : 2 Issue : 14 Page : 2239- 2241

ATRICHIA WITH PAPULAR LESIONS - A CASE REPORT

R. Rajesh, S. Kavitha,V. Mohankumar

1. Associate Professor. Department of Dermatology IRT Perundurai medical College, Perundurai, ErodeDistrict
2. Tutor. Department of Dermatology IRT Perundurai medical College, Perundurai, Erode District
3. Assistant Professor. Department of Dermatology IRT Perundurai medical College, Perundurai, Erode District

CORRESPONDING AUTHOR:
Dr. R. Rajesh,
Associate Professor,
Department of Dermatology,
IRT Perundurai medical College,
Perundurai, Erode District, Pin code –638053.
E-mail:     rajeshderma@gmail.com

ABSTRACT: Atrichia with papular lesion is a rare disorder of hair development characterized by almost complete loss of scalp and body hair few weeks after birth and is not replaced by terminal hair. Here we report a case of papular atrichia in a 4 year old female child presented with loss of hair and multiple follicular keratotic papules.

How to cite this article

R. Rajesh, S. Kavitha,V. Mohankumar. Atrichia with Papular Lesions - A Case Report. Journal of Evolution of Medical and Dental Sciences 2013; Vol 2, Issue 14, April 8; Page: 2239-2241, DOI: 10.14260/jemds/521

CASE REPORT: 4 Year old female child, first born to 3rd degree consanguineous parent, immunized for her age, presented with paucity of scalp hair since childhood .Her younger sibling is absolutely normal. She had H/O scalp hair during birth & was shed within few weeks of life and is not replaced by terminal hair (figure.1) .Since then she has been almost devoid of scalp hair, eyebrows and eye lashes (figure.2) Follicular papules on the scalp started appearing in the 1st year. No growth or developmental delay. Local examination revealed few fuzzy hairs on the scalp with multiple follicular keratotic papules (figure.3).There were multiple skin colored papules over the neck, shoulder and extremities (figure.4).Teeth, nail, available mucosa and sweating were normal. Other systems were normal.
Hematological and biochemical parameters were within normal limit. Hair shaft under light microscopy is normal which ruled out monilithrix (figure.5).Scraping and KOH preparation showed no fungal element under microscope. Histopathology revealed normal epidermis, remnants of hair follicle along with perifollicular lymphocytic infiltrate and fibrosis in dermis (7). Patient was treated with topical tretinoin 0.05% cream and tacrolimus0.03% ointment along with biotin supplementation. Both parents and child were counseled for artificial hair. Patient is followed up regularly with no improvement.

DISCUSSION: APL is an autosomal recessive form of total alopecia, characterized by hair loss soon after birth and the development of follicular papules with absence of terminal hair growth.
 In1954, Damste and prakken (1) followed by lowenthal and Prakken in 1961(2, 4) used the terminology for patients with atrichia with multiple follicular keratinous cysts. Ahammed et al 1998, who referred this disease as congenital atrichia reported the identification of missense mutation in zinc finger domain of hairless gene that maps on chromosome 8p12 and is implicated in the pathogenesis of APL(5). Dr. Angela Christino found similar type of mutation occurring in hairless mouse .Hence APL is considered to be human analog of hairless mouse(6) .All affected individual were considered as homozygous for A-G transition at nucleotide position 2909 (exon14) leading to amino acid change of asparagines to serine on codon 970 .
Clinical and molecular diagnostic criteria of APL are as follows. (8)
I. FAMILY HISTORY
*Family history, pattern of inheritance established as autosomal recessive, possible history of consanguinity.
*Patients are sometimes born without hair and none ever grows. More typically, patients are born with normal hair that is shed after several months and never regrows.
*Papules that start to appear during the first year of life, particularly under the midline of the eye, on the face, and on the extremities.
II. EXAMINATION
*Complete lack or almost complete lack of scalp hair.
*Sparse eyebrows and eyelashes.
*Lack of secondary axillary, pubic, or body hair.
*Papules – few to many distributed over some or all of the following areas: scalp, cheeks, arms, elbows, thighs and knees.
*Normal nails and teeth, normal sweating, and no growth or developmental problems.
*Whitish hypopigmented streaks on the scalp.
III. LABORATORY TESTS
*Lack of response to any treatment modality.
*Biopsy - absence of mature hair follicle structures, cysts filled with cornified material.
*Mutation in the hr gene.
Based on the above criteria ,we arrived at the diagnosis of APL. Papules and cysts around the elbow, pitted scars over the healed lesions, atrophoderma vermiculatum and hypo pigmented streaks over the scalp can be associated with APL (7). In our patient, keratotic papules over shoulder, elbow and knee were present..Differential diagnosis to be considered were monilithrix, alopecia universalis and vitamin D- dependant rickets type 2A. Molecular gene analysis for pathogenetic mutation will help in confirmation and differentiation of these disorders.

CONCLUSION: According to present knowledge no treatment option is available to stimulate hair growth in papular atrichia (3). We report this case because of its rarity, accurate diagnosis, and discrimination from other disorders should prevent unnecessary treatment of patients with APL.

REFERENCES:
1.    Damste S, Prakken JR. Atrichia with papular lesions; a variant of congenital Ectodermal dysplasia. Dermatologica 1954; 108:114-21.
2.    Lowenthal JA, Prakken JR. Atrichia with papular lesions .Dermatologica 1961; 122: 85-9.
3.    T.Kuster,R.Happle,R.Hoffmann,P.Freyschmidt-Paul,Department of Dermatology, Philipp University of Marburg Deutschhausstrasse 9,35033 Marburg, Germany. European journal of dermatology, Volume 11, No.4, 375-7, July-August 2001, Votre diagnostic?
4.    Ahammed W, Zlotogorski A, Panteleyev AA, LamHM, Ahamad M,
5.    Haque MF, Abdallah HM, Dragar L, Christino AM. Genomic organization of human hairless gene (hr) and identification of a mutation underlying congenital Atrichia in Arab Palestinian family. Genomics 1999; 56:: 141-8
6.    AhammedW, IrvineAD, LamH, Buckley, Bingham A, PanteleyevAA, McGrathJA, Christiano AM. A missense mutation in the zinc –finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.Am J Hum Genet 1998; 63:984-91. Sundberg JP, King LE Jr. Mouse models for the study of human hair loss.Dermatol Clin 1996; 14:619-32
7.    Abraham zlotogorski,Amalia Maritinez-Mir-,Jack Green-,Hamut Lam ,Andrei A Panteleyev, Rodney Sinclair ,Angela M christiano. Journal of Investigative Dermatology-Evidence for Pseudo dominant Inheritance of Atrichia with papular lesions.
8.    Abraham Zlotogorski, Andrei A Panteleyev*, Vincent M Aita* and Angela M Christiano* Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions1.,Journal of Investigative Dermatology (2002) 118, 887–890; doi:10.1046/j.1523-

 

 

 

 

 



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