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Year : 2017  |  Volume : 18  |  Issue : 3  |  Page : 255-257

A case of papular atrichia with dextrocardia and situs inversus: Association or coincidence?


Department of Dermatology, Venereology and Leprology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Date of Web Publication7-Jun-2017

Correspondence Address:
Dammaningala Venkataramaiah Lakshmi
Department of Dermatology, Venereology and Leprology, Victoria Hospital, Bangalore Medical College and Research Institute, No 52/53, OPD “B” Block, Bengaluru - 560 002, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.207606

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How to cite this article:
Lakshmi DV, Leelavathy B, Asha GS, Archana L. A case of papular atrichia with dextrocardia and situs inversus: Association or coincidence?. Indian J Paediatr Dermatol 2017;18:255-7

How to cite this URL:
Lakshmi DV, Leelavathy B, Asha GS, Archana L. A case of papular atrichia with dextrocardia and situs inversus: Association or coincidence?. Indian J Paediatr Dermatol [serial online] 2017 [cited 2017 Sep 26];18:255-7. Available from: http://www.ijpd.in/text.asp?2017/18/3/255/207606

Sir,

A 5-year-old male child, third born of second degree consanguineous marriage presented with complete alopecia over the scalp since the age of 2 months. He had scanty hairs at birth but gradually lost all scalp hair with sparse hairs over the eyebrow and eyelashes. There was no history suggestive of abnormalities in hearing impairment, delay in dentition, intolerance to heat, decreased sweating, atopy, and delayed milestones. The child had been hospitalized during infancy for recurrent lower respiratory tract infections and was diagnosed with situs inversus and dextrocardia.

On examination, there was alopecia over the scalp with papules with sparse hairs over the eyebrows and eyelashes [Figure 1]. Multiple, discrete skin colored papules were seen over the trunk, upper and lower extremities. Teeth, nails, and mucosa were normal.
Figure 1: (a) Alopecia of the scalp with multiple papular lesions with loss of eyebrows. (b-d) Discrete multiple papules over the extensor aspect of legs, forearms and also dorsum of the hands

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Biopsy from a papule over the forearm revealed acanthosis and multiple epidermal keratin cysts. Biopsy from the scalp showed a markedly decreases follicular counts, few vellus follicles in the mid-dermis with sparse perifollicular lymphocytic infiltrate and follicular plugging with no terminal hairs [Figure 2]. Chest radiograph [Figure 3] and transthoracic echocardiography showed situs inversus with dextrocardia. Based on clinical and histopathological findings, a diagnosis of Atrichia with papular lesions (APL) was made with rare association of situs inversus and dextrocardia.
Figure 2: (a) Markedly decreased follicles on scalp biopsy (H and E, 10X) (b) Follicular plugging in epidermis (H and E, ×100). (c and d) Dystrophic hair follicle in lower dermis (H and E, ×45 and × 100) (e) Histopathology of the papule over the forearm revealed acanthosis and epidermal cysts (H and E, ×100)

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Figure 3: Chest radiograph showing dextrocardia and situs inversus

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APL (OMIM#209500) is a rare form of irreversible alopecia, autosomal recessive condition. Mutations in the human HR gene located on chromosome 8p21.2 which encode a putative single zinc-finger transcription factor protein believed to regulate catagen remodeling in the hair cycle is implicated. The hair matrix cells in APL undergo a premature apoptosis, 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.

In individuals affected, normal hairs are present at birth, but these neonatal hairs are usually shed within the 1st months of life and are never replaced. The shedding of the hair occurs during the first 2 ± 3 years of life. Hairs are typically absent from the scalp, axilla, and body especially eyebrows and eyelashes with multiple keratin cysts. These patients have normal development, hearing, teeth, and nails and no abnormalities of sweating. Histology shows an infundibular portion of hair follicles, but the middle and lower portions are replaced by keratinizing cysts. No hair shafts are formed.

The close differential diagnosis includes alopecia universalis, ichthyosis follicularis alopecia and photophobia (IFAP syndrome) and Vitamin D-dependent rickets Type II An induced alopecia. Unlike APL, in IFAP the histopathology shows abortive sebaceous glands, and the total number of hair follicles are not significantly decreased.

Various associations of APL with mental retardation, gastrointestinal polyposis, and delay in bone age have been reported.[1],[2],[3] Congenital atrichia associated with situs inversus and mesocardia has been reported.[4] Dextrocardia with situs inversus is a rare condition is estimated to occur one in 6000–8000 live births.[5]

In the present case, the child has congenital papular atrichia associated situs inversus with dextrocardia and also met 4 out of 5 major criteria as proposed by Zlotogorski et al., for APL and later revised by Yip et al. We are reporting this case for this rarity and also systemic association of dextrocardia with situs inversus.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial Support and Sponsorship

Nil.

Conflicts of Interest

There are no conflicts of interest.

 
  References Top

1.
Ishii Y, Kusuhara T, Nagata T. Atrichia with papular lesions associated with gastrointestinal polyposis. J Dermatol 1979;6:111-6.  Back to cited text no. 1
    
2.
del Castillo V, Ruiz-Maldonado R, Carnevale A. Atrichia with papular lesions and mental retardation in two sisters. Int J Dermatol 1974;13:261-5.  Back to cited text no. 2
[PUBMED]    
3.
Kruse R, Cichon S, Anker M, Hillmer AM, Barros-Núñez P, Cantú JM, et al. Novel hairless mutations in two kindreds with autosomal recessive papular atrichia. J Invest Dermatol 1999;113:954-9.  Back to cited text no. 3
    
4.
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. 4
[PUBMED]    
5.
Supriya G, Saritha S, Seema M. Situs inversus totalis – A case report. IOSR J Appl Phys 2013;3:12-6.  Back to cited text no. 5
    


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  [Figure 1], [Figure 2], [Figure 3]



 

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