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 Table of Contents  
CASE REPORT
Year : 2011  |  Volume : 3  |  Issue : 2  |  Page : 112-114  

Atrichia with papular lesions


Departments of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Date of Web Publication14-Dec-2011

Correspondence Address:
Manish Bansal
Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi - 221 005, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-7753.90827

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   Abstract 

Atrichia with papular lesions (APL) is a rare autosomal recessive form of irreversible alopecia with onset at few months of age with papular keratin cysts over the body. It is associated with mutation in the Zinc finger domain of the human hairless gene on chromosome region 8p12. An eleven-year-old male presented with extensive alopecia starting at six months of age refractory to the treatment along with keratotic papules on the face and trunk. Biopsy from a papule showed mid-dermal keratin cysts and from the scalp showed few vellus follicles with no terminal hairs. The diagnosis of APL was made based upon the criteria proposed. Vitamin D-dependent rickets was ruled out as it has similar clinical presentation. Accurate diagnosis of APL is required to avoid unnecessary treatment to the patient as it is commonly misdiagnosed as alopecia universalis and treated with systemic steroids.

Keywords: Alopecia universalis, atrichia, papular


How to cite this article:
Bansal M, Manchanda K, Lamba S, Pandey S S. Atrichia with papular lesions. Int J Trichol 2011;3:112-4

How to cite this URL:
Bansal M, Manchanda K, Lamba S, Pandey S S. Atrichia with papular lesions. Int J Trichol [serial online] 2011 [cited 2019 Nov 12];3:112-4. Available from: http://www.ijtrichology.com/text.asp?2011/3/2/112/90827


   Introduction Top


Atrichia with papular lesions (APL) is a rare autosomal recessive form of irreversible alopecia characterized by papular lesions of keratin cysts on the body. It is characterized by hair loss within months after birth and development of keratin cysts over extensive areas of body. [1] It is associated with mutation in the Zinc finger domain of the human hairless gene on chromosome region 8p12. [2]


   Case Report Top


An eleven-year-old male born of consanguineous marriage presented with complete alopecia over the scalp since the age of six months. He had scanty hairs over the scalp at birth but gradually lost all hair. He had sparse hairs over the eyebrow and eyelashes. He complained of multiple, raised lesions over the face and upper trunk for three years. There was no history of delayed milestones, hypohidrosis, bone pains, hearing loss, seizures or similar illness in family.

There was alopecia over the scalp, axillary and pubic area. Sparse hairs over the eyebrows and eyelashes were present [Figure 1]. Multiple discrete, skin-colored, firm, papulo-nodular lesions, 0.5-1.0 cm in size were present over the face, neck, upper limb and trunk [Figure 1]. His physical growth was normal according to age. Teeth, nail and mucosa were normal. He had no bony abnormalities and no systemic involvement. Blood counts, liver and renal profile was normal except increased alkaline phosphatase 1343.9U/l (Normal range: 0-258U/l). The Vitamin D 3 levels (1,25 dihydroxy cholecalciferol) and parathormone levels measured by radioimmunoassay were 30.2 ng/ ml (normal:30-74 ng/ml) and 16 pg/ml (normal:12-72 pg/ ml) respectively. Radiographs of the wrist joint were normal. Differential diagnoses of alopecia universalis and vitamin D-dependent rickets were made. Biopsy from a papule over the trunk revealed multiple mid-dermal keratin cysts [Figure 2]a. Biopsy from the scalp showed a few vellus follicles in the mid-dermis with sparse peri-follicular lymphocytic infiltrate and number of follicles were reduced. There were no terminal hairs and sebaceous glands [Figure 2]b. Based on clinical and histopathological findings a diagnosis of APL was made.
Figure 1: Multiple papular lesions over the face with alopecia of scalp, sparse hair over eyebrows

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Figure 2: (a) Histopathology of a papule over the back revealed multiple mid-dermal cysts containing keratinous material (arrow) (H and E, ×100) (b) Histopathology of scalp showed few vellus follicles in the mid-dermis with no terminal follicles (arrow) (H and E, ×100)

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   Discussion Top


APL is a rare, autosomal recessive form of alopecia with multiple keratin cysts. Patients are born with hair that falls and is never replaced. Zlotogorski et al., proposed diagnostic criteria for APL but later Yip et al., revised them [Table 1]. [3],[4] Histology shows infundibular portion of hair follicles, but the middle and lower portions are replaced by keratinizing cysts. [5] No hair shafts are formed. The underlying disorder in APL is towards the end of the anagen phase of the hair bulb. Proximal inner and outer root sheath undergo premature massive apoptosis and disintegrate into cell clusters losing contact with dermal papilla. [6] Mutations in the human hairless gene located on Chromosome 8p21.2 encoding a putative Zinc finger transcription factor have been studied. [7],[8] Gene mutations for vitamin D receptor, causing vitamin D-dependent rickets, cause a similar clinico-histological phenotype. [9],[10]
Table 1: Diagnostic criteria for Atrichia with papular lesions


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The patient met four out of five major criteria supplemented by minor criteria proposed for the diagnosis. We are reporting the case as it is a rare disorder commonly misdiagnosed as alopecia universalis resistant to treatment and wrongly treated with steroids with additional adverse effects. Vitamin D-dependent rickets should be ruled as it has similar clinical presentation and is treatable. Diagnosis of APL should be kept in mind in such presentations to avoid unnecessary treatment.

 
   References Top

1.Thomas M, Daniel S. Atrichia congenita with papular lesions. Indian J Dermatol Venereol Leprol 2011;77:70-2.  Back to cited text no. 1
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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
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3.Zlotogorski A, Panteleyev AA, Aita VM, Christiano AM. Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Dermatol 2002;118:887-90.  Back to cited text no. 3
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4.Yip L, Horev L, Sinclair R, Zlotogorski A. Atrichia with papular lesions: A report of three novel human hairless gene mutations and a revision of diagnostic criteria. Acta Derm Venereol 2008;88:346-9.  Back to cited text no. 4
[PUBMED]  [FULLTEXT]  
5.Loffreda DM. Inflammatory diseases of hair follicle, sweat glands and cartilage. In: Elder DE, Elenitsas R, Johnson BL, Murphy GF, Editors. Lever's Histopathology of the skin. 10 th ed. Philadelphia: Lippincott Williams and Williams; 2009. p. 490.  Back to cited text no. 5
    
6.Messenger GA, Berker de RA, Sinclair DR. Disorders of hair. In: Burns T, Breathnach S, Cox N, Griffiths C, Editors. Rooks's textbook of dermatology. 8 th ed. Massachusetts: Wiley-Blackwell; 2010. p. 66.59.  Back to cited text no. 6
    
7.Kim H, Wajid M, Kraemer L, Shimomura Y, Christiano AM. Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. J Dermatol Sci 2007;48:207-11.  Back to cited text no. 7
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8.Kraemer L, Wajid M, Shimomura Y, Christiano AM. Mutations in the hairless gene underlie APL in three families of Pakistani origin. J Dermatol Sci 2008;50:25-30.  Back to cited text no. 8
[PUBMED]  [FULLTEXT]  
9.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. 9
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10.Bergman R, Schein-Goldshmid R, Hochberg Z, Ben-Izhak O, Sprecher E. The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: A comparative clinical, histologic, and immunohistochemical study. Arch Dermatol 2005;141:343-51.  Back to cited text no. 10
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