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CASE REPORT
Year : 2014  |  Volume : 15  |  Issue : 2  |  Page : 94-95

Congenital atrichia with papular lesions


Department of Dermatology, Command Hospital and AFMC, Pune, Maharashtra, India

Date of Web Publication27-Aug-2014

Correspondence Address:
Biju Vasudevan
Department of Dermatology, Command Hospital (Southern Command), Wanowrie, Pune - 411 040, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.139512

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  Abstract 

Congenital alopecia has broad differential diagnosis and poses diagnostic and therapeutic challenges. It is a rare form of irreversible alopecia inherited autosomal recessively. Atrichia congenita with papular lesions represents a complex and heterogeneous group of genodermatoses characterized by irreversible complete hair loss soon after birth, and associated with the development of keratin-filled cysts over the body. We report a case of 4-year-old boy presenting with complete loss of hair over scalp, eye brows, eye lashes, and body since birth. Patient also had papular lesions over body.

Keywords: Alopecia, atrichia, congenital, papules


How to cite this article:
Verma R, Vasudevan B, Pragasam V, Badad A, Mitra D, Neema S. Congenital atrichia with papular lesions. Indian J Paediatr Dermatol 2014;15:94-5

How to cite this URL:
Verma R, Vasudevan B, Pragasam V, Badad A, Mitra D, Neema S. Congenital atrichia with papular lesions. Indian J Paediatr Dermatol [serial online] 2014 [cited 2019 Dec 9];15:94-5. Available from: http://www.ijpd.in/text.asp?2014/15/2/94/139512


  Introduction Top


Congenital alopecia has broad differential diagnosis and poses diagnostic and therapeutic challenges. It is a rare form of irreversible alopecia inherited autosomal recessively. Atrichia congenita with papular lesions (APL) represents a complex and heterogeneous group of genodermatoses characterized by irreversible complete hair loss soon after birth, and associated with the development of keratin-filled cysts over the body. [1] Homozygous mutations in the hairless gene (HR) is implicated. [2],[3],[4] We herein report a child with congenital atrichia and papular lesions, which is very rarely reported in the literature.


  Case report Top


A 4-year-old boy presented with complete loss of hair on the body. He had scanty scalp hair at birth, which according to parents was lost in about 15 days. At 3 years of age, the parents also noticed multiple skin colored raised lesions over the body, which progressively increased in number. His alopecia was unresponsive to therapy. The child attained normal milestones. There was no history of decreased sweating, blurring of vision, decreased hearing, seizures, atopy, or bone pains. There was no history of consanguinity. His siblings were asymptomatic. None of his family members had similar complaints.

On examination, he had complete absence of hair on the body and scalp [Figure 1]. Multiple skin colored keratotic papules of size 0.5 cm were present on the bilateral extensor aspects of legs and trunk [Figure 2] and [Figure 3]. He had no abnormalities of mucosae, nails, teeth and sweat glands. Palms and soles were normal. No bony abnormalities, dysmorphic features or systemic involvement was present.
Figure 1: Large necrotic hemorrhagic patch on both the buttocks with retiform like purpura extending on the lower back

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Figure 2: Papular lesions on buttocks and lower extremities

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Figure 3: Close up of papular lesions

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Atrichia congenita with papular lesions is a rare, autosomal recessive form of total alopecia of the scalp, eyebrows, eyelashes, axillary and pubic hair, characterized by hair loss soon after birth and the development of keratin-filled cysts or horny papules over extensive areas of the body involving face, neck, limbs, and trunk. This condition was noted among the Irish Traveler gypsies. Ahmad et al., first referred to this condition as congenital atrichia. [5] These patients have normal development, hearing, teeth and nails. There are no abnormalities of sweating. Heterozygous individuals have normal hair and are clinically indistinguishable from genotypically normal persons.

The hair matrix cells in APL undergo a premature apoptosis, together with decline in Bcl-2 expression, loss of neural cell adhesion molecule positivity, and a disconnection from overlying epithelial sheath, which is essential for the movement of the dermal papilla. As a result of this, the hair bulbs and dermal papillae remain stranded in the dermis, and messages between dermal papillae and the stem cells in bulge are not transmitted, so no further hair growth occurs.

The exact molecular basis of this disease is not known. Mutations in the human HR located on chromosome 8p21.2 have been implicated. It encodes for a putative single zinc-finger transcription factor protein, believed to regulate catagen remodeling in the hair cycle. It is hypothesized that the vitamin D receptor and HR genes, which are both zinc-finger proteins, may be in same genetic pathway controlling postnatal hair cycle. [6] Zlotogorski et al. [7] proposed revised clinical criteria for APL based on their personal observation and retrospective analysis of cases described in literature. Vitamin D-dependent rickets type II A induced alopecia and alopecia universalis are important differential diagnosis of APL.

Congenital atrichia associated with situs inversus and mesocardia has been reported in a 2-year-old child. [8] Other syndromes associated with congenital alopecia are Moynahan's syndrome (mental retardation, epilepsy), hidrotic ectodermal dysplasia (palmoplantar keratoderma, thickened nails) and aging syndromes. [9] Congenital atrichia without ectodermal dysplasia is very rare. Our patient is a case of congenital atrichia with papular lesions and is a very rarely reported entity in literature.

 
  References Top

1.Tillman WG. Alopecia congenita: Report of two families. Br Med J 1952;2:428.  Back to cited text no. 1
[PUBMED]    
2.Indelman M, Bergman R, Lestringant GG, Peer G, Sprecher E. Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions. Br J Dermatol 2003;148:553-7.  Back to cited text no. 2
    
3.Lin HC, Yu-Yun Lee J, Lin JH, Chao SC. Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation. Dermatol Sin 2010;28:40.  Back to cited text no. 3
    
4.Henn W, Zlotogorski A, Lam H, Martinez-Mir A, Zaun H, Christiano AM. Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis. J Am Acad Dermatol 2002;47:519-23.  Back to cited text no. 4
    
5.Ahmad W, Panteleyev AA, Christiano AM. The molecular basis of congenital atrichia in humans and mice: Mutations in the hairless gene. J Investig Dermatol Symp Proc 1999;4:240-3.  Back to cited text no. 5
    
6.Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, et al. Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. J Invest Dermatol 2001;117:612-7.  Back to cited text no. 6
    
7.Zlotogorski A, Panteleyev AA, Aita VM, Christiano AM. Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Dermatol 2001;117:1662-5.  Back to cited text no. 7
    
8.Sacchidanand S, Sahana M, Hiremagalore R, Asha G. Congenital atrichia associated with situs inversus and mesocardia. Int J Trichology 2012;4:181-3.  Back to cited text no. 8
    
9.Smith FJ, Morley SM, McLean WH. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol 2002;118:530-2.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]


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Acta Dermatovenerologica Alpina Pannonica et Adriatica. 2018; 27(1)
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