Congenital atrichia associated with situs inversus and mesocardia

Sacchidanand, S; Sahana,; Hiremagalore, Ravi; Asha, GS

doi:10.4103/0974-7753.100093

Cited by 5 publications

(2 citation statements)

References 9 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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“…Systemic non-steroidal anti-inflammatory drugs (NSAIDs) and topical steroids are used in its treatment. [4] Congenital atrichias represent a large and heterogeneous group of inherited hair disorders. In this report, we describe a patient affected with alopecia universalis congenita (MIM 203655).…”

Section: Discussionmentioning

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 papular lesions: a rare cause of irreversible childhood alopecia

Arif

Adil

Amin

2018

Acta Dermatovenerologica Alpina Pannonica Et Adriatica

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Congenital atrichia with papular lesions (APL) is a disease characterized by the complete absence of hair from the whole body occurring within a few months of birth and the presence of papules distributed over the body. A 9-year-old boy presented with sparse hair over his body and with a history of losing his hair soon after birth. Multiple skin-colored papules were observed over the scalp. A biopsy from a papule showed keratinous cysts in the dermis and the absence of hair follicles. A diagnosis of congenital APL was made after vitamin D-dependent rickets was excluded. This case highlights congenital APL as a cause of total alopecia.

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Congenital atrichia associated with situs inversus and mesocardia

Cited by 5 publications

References 9 publications

Inherited Hairlessness: A Case Study of Familial Congenital Atrichia

Inherited Hairlessness: A Case Study of Familial Congenital Atrichia

Congenital Atrichia: A Case Report

Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia

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