Congenital Atrichia with Recurrent Episcleritis-A Rare Case Report

Chauhan, Anubhav; Chauhan, Shveta; Tomar, Mandeep

doi:10.26502/anu.2644-2833006

Cited by 2 publications

(3 citation statements)

References 4 publications

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“…Vitamin D-dependent rickets type IIA, hidrotic ectodermal dysplasia, Moynahan syndrome, and IFAP (Ichthyosis follicularis with alopecia and photophobia) syndrome have all been linked to it [ 13 ] and some rare associations with episcleritis [ 14 ], situs inversus and mesocardia [ 15 ]. According to a study by John et al in two consanguineous Pakistani families, atrichia does indeed have a greater impact on these households.…”

Section: Discussionmentioning

confidence: 99%

Inherited Hairlessness: A Case Study of Familial Congenital Atrichia

Tunuguntla¹,

Mathew²,

Quadri³

et al. 2023

Cureus

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An uncommon disorder known as atrichia congenita with ectodermal defects (isolated type) can present with the complete absence of hair at birth or can cause the scalp hair to fall out between the ages of one to six months, after that no new hair growth occurs. Patients don't develop pubic and axillary hairs in addition to lacking or having scant brow, eyelash, and body hair. It could develop independently or in tandem with other problems. Isolated congenital alopecia has been reported to occur in both sporadic and familial forms. Although dominant or unevenly dominant inheritance has been found in rare families, the isolated family form often inherits in an autosomal recessive manner. In this case report, we present a rare case of familial congenital atrichia in a 16-year-old girl. There can be a genetic component to her illness because both her mother and father also show some of the clinical features.

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Section: Discussionmentioning

confidence: 99%

Inherited Hairlessness: A Case Study of Familial Congenital Atrichia

Tunuguntla¹,

Mathew²,

Quadri³

et al. 2023

Cureus

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“…Congenital alopecia may occur isolated or with associated defects. On the basis of such associations, several different syndromes featuring congenital alopecia can be distinguished (1)(2)(3). The rare isolated form of congenital alopecia has been reported in sporadic and familial cases.…”

Section: Discussionmentioning

confidence: 99%

“…Alopecia universalis and Vitamin Ddependent rickets type II A induced alopecia should be considered in the differential diagnosis. [2] CASE REPORT An extreme preterm (28 week) old male baby born to a G3P2L2 mother via normal vaginal delivery, with birth weight of 900gms, did not cry after birth, was resuscitated according to neonate resuscitation protocol, was intubated in labour room with E.T. no.…”

Section: Introductionmentioning

confidence: 99%

Congenital Atrichia: A Case Report

Dhanaji Kanase,

Shinde,

Waydande

2023

Int J Sci Healthcare Res

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Introduction: Congenital Atrichia is a rare genetic condition in which all body hair may be absent. Congenital Atrichia is a rare genodermatoses is characterized by a mutation of the human hairless (HR) gene on chromosome 8p22. There is loss of scalp hair between, eyebrow, eyelash, and body hair may also be sparse or absent; patients may have a few pubic and axillary hairs. The condition may present in isolation or along with other defects. There are many forms of inherited alopecia (i.e., hair loss), which vary in age of onset, severity, and associated ectodermal abnormalities. Congenital alopecia universalis or congenital atrichia without associated ectodermal defects is a rare autosomal recessive disorder and is the only form of inherited alopecia for which the molecular basis is known. (2) Case Report: Here is a case report on a preterm neonate delivered via normal vaginal delivery in our hospital setup. Patient was on mechanical ventilator after birth. Patient gradually improved at it was noticed that there was total absence of hair on the body. Dermatology opinion was taken and after few investigations and genetic testing it was confirmed case of Congenital Atrichia due to mutation in chromosome no 8p22. Discussion: Congenital atrichia is a rare disease, causing irreversible alopecia which is inherited autosomal recessively. There is complete irreversible hair loss seen soon after birth. Situs inversus and mesocardia has also been reported to be associated with this disease. Conclusion: Congenital atrichias represent a large and heterogeneous group of inherited hair disorders. In this report, we describe a patient affected with alopecia universalis congenita Keywords: Congenital, atrichia, hairless gene, vitamin d deficiency

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Congenital Atrichia with Recurrent Episcleritis-A Rare Case Report

Cited by 2 publications

References 4 publications

Inherited Hairlessness: A Case Study of Familial Congenital Atrichia

Inherited Hairlessness: A Case Study of Familial Congenital Atrichia

Congenital Atrichia: A Case Report

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