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GlossaryAtrichia

complete absence of hair due to genetic factors

Atrichia is a medical condition characterized by the complete absence of hair, often due to genetic factors. It can be congenital, meaning present at birth, or acquired later in life, and is typically associated with mutations in specific genes that are crucial for hair follicle development and function.

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research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.

research Atrichia With Papular Lesions

32 citations , May 1986 in “Archives of Dermatology”

The condition is likely inherited in an autosomal-dominant pattern.

research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions

23 citations , July 2003 in “Journal of Investigative Dermatology”

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene

20 citations , October 2005 in “Archives of Dermatological Research”

research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene

20 citations , August 2003 in “Clinical and Experimental Dermatology”

A new genetic mutation in the hairless gene causes a rare hair loss disorder.

research Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene

20 citations , January 2002 in “Laboratory Animals”

Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.

research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene

19 citations , May 2006 in “Clinical and Experimental Dermatology”

Researchers found a new mutation causing total hair loss from birth.

research Atrichia and Papular Lesions: Report of a Case

18 citations , January 1992 in “Dermatology”

A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.

research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation

14 citations , December 2010 in “Journal of human genetics”

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

research Keratoma Hereditaria Mutilans (Vohwinkel's Disease) with Congenital Alopecia Universalis (Atrichia Congenita)

14 citations , June 1989 in “Journal of dermatology”

Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.

research Atrichia with papular lesions

8 citations , January 2011 in “International journal of trichology”

Accurate diagnosis of APL is crucial to avoid unnecessary treatments.

research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family

5 citations , September 2013 in “The Journal of Dermatology”

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Detection of a Novel Missense Mutation in Atrichia with Papular Lesions

research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions

4 citations , January 2011 in “Annals of Dermatology”

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families

3 citations , February 2020 in “The journal of gene medicine”

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

3 citations , January 2013 in “Dermatology”

New genetic mutations causing hair loss were found in a Chinese family.

research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation

3 citations , March 2010 in “Dermatologica Sinica”

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

research Mutation des menschlichen hairless -Gens bei Atrichia universalis

2 citations , September 1998 in “Der Hautarzt”

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

1 citations , January 2022 in “Annals of Dermatology”

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia

July 2025 in “TURKDERM”

This rare genetic disorder causes permanent hair loss and skin bumps from birth.

research Atrichia with papular lesions mimicking alopecia areata universalis

January 2025 in “Dermatology Online Journal”

The man's hair loss and skin papules were diagnosed as atrichia with papular lesions, not alopecia areata universalis.

research Atrichia with Papular Lesions: Dermoscopy to the Rescue

December 2024 in “Indian Journal of Dermatology”

Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.

research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report

December 2022 in “Curēus”

Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.

research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions

September 2022 in “IP Indian journal of clinical and experimental dermatology”

An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.

research ATRICHIA WITH PAPULAR LESIONS – A CASE REPORT

April 2012 in “Journal of evolution of medical and dental sciences”

No effective treatment exists to stimulate hair growth in atrichia with papular lesions.

research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.

69 citations , May 2002 in “Journal of Investigative Dermatology”

Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.

research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia

66 citations , December 1999 in “Journal of Investigative Dermatology”

New mutations in the hairless gene may cause hair loss and affect bone development.

research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions

47 citations , April 2000 in “Experimental Dermatology”

A new gene mutation causes a rare type of hair loss.

research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia

37 citations , August 1999 in “Journal of Investigative Dermatology”

A specific gene mutation causes complete hair loss without other health issues.

research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia

26 citations , October 2002 in “Journal of Investigative Dermatology”

A specific gene mutation causes congenital hair loss.

research Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia

14 citations , July 2001 in “American Journal of Human Genetics”

Haplogroup X found in Altaian population supports Amerindian origin.