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Alopecia universalis congenita(ALUNC)

MedGen UID:
349262
Concept ID:
C1859877
Congenital Abnormality
Synonyms: ALUNC; ATRICHIA, GENERALIZED
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
Gene (location): HR (8p21.3)
 
Monarch Initiative: MONDO:0008757
OMIM®: 203655
Orphanet: ORPHA701

Definition

Alopecia universalis congenita (ALUNC) is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998). This rare disorder is clearly distinct from alopecia areata (AA1; 104000), which has an autoimmune basis with probable genetic predisposition. [from OMIM]

Clinical features

From HPO
Absent eyebrow
MedGen UID:
98133
Concept ID:
C0431448
Congenital Abnormality
Absence of the eyebrow.
Alopecia universalis
MedGen UID:
120481
Concept ID:
C0263505
Disease or Syndrome
Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.\n\nIn most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.\n\nAlopecia areata affects people of all ages, although it most commonly appears in adolescence or early adulthood. Hair loss occurs over a period of weeks. The hair usually grows back after several months, although it may fall out again. In some cases, unpredictable cycles of hair loss followed by regrowth can last for years. In addition to hair loss, some affected individuals have fingernail and toenail abnormalities, such as pits on the surface of the nails.\n\nThe hair loss associated with alopecia areata is not painful or disabling. However, it causes changes in a person's appearance that can profoundly affect quality of life and self-esteem. In some people, the condition can lead to depression, anxiety, and other emotional or psychological issues.
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Congenital Abnormality
Lack of eyelashes.
Absent pubic hair
MedGen UID:
349155
Concept ID:
C1859391
Finding
Absence of pubic hair.
Absent axillary hair
MedGen UID:
347869
Concept ID:
C1859392
Finding
Absence of axillary hair.

Professional guidelines

PubMed

Zhou C, Li X, Wang C, Zhang J
Clin Rev Allergy Immunol 2021 Dec;61(3):403-423. Epub 2021 Aug 17 doi: 10.1007/s12016-021-08883-0. PMID: 34403083
Sterkens A, Lambert J, Bervoets A
Clin Exp Med 2021 May;21(2):215-230. Epub 2021 Jan 1 doi: 10.1007/s10238-020-00673-w. PMID: 33386567
Cranwell WC, Lai VW, Photiou L, Meah N, Wall D, Rathnayake D, Joseph S, Chitreddy V, Gunatheesan S, Sindhu K, Sharma P, Green J, Eisman S, Yip L, Jones L, Sinclair R
Australas J Dermatol 2019 May;60(2):163-170. Epub 2018 Nov 8 doi: 10.1111/ajd.12941. PMID: 30411329

Recent clinical studies

Etiology

Bergman R, Schein-Goldshmid R, Hochberg Z, Ben-Izhak O, Sprecher E
Arch Dermatol 2005 Mar;141(3):343-51. doi: 10.1001/archderm.141.3.343. PMID: 15781675
Klein I, Bergman R, Indelman M, Sprecher E
J Invest Dermatol 2002 Oct;119(4):920-2. doi: 10.1046/j.1523-1747.2002.00268.x. PMID: 12406339

Diagnosis

Malik S, Singhal M, Jadhav SS, Korday CS, Nayak CS
J Med Case Rep 2016 Sep 15;10(1):250. doi: 10.1186/s13256-016-1035-z. PMID: 27633379Free PMC Article
Bergman R, Schein-Goldshmid R, Hochberg Z, Ben-Izhak O, Sprecher E
Arch Dermatol 2005 Mar;141(3):343-51. doi: 10.1001/archderm.141.3.343. PMID: 15781675

Prognosis

Malik S, Singhal M, Jadhav SS, Korday CS, Nayak CS
J Med Case Rep 2016 Sep 15;10(1):250. doi: 10.1186/s13256-016-1035-z. PMID: 27633379Free PMC Article
Bergman R, Schein-Goldshmid R, Hochberg Z, Ben-Izhak O, Sprecher E
Arch Dermatol 2005 Mar;141(3):343-51. doi: 10.1001/archderm.141.3.343. PMID: 15781675
Klein I, Bergman R, Indelman M, Sprecher E
J Invest Dermatol 2002 Oct;119(4):920-2. doi: 10.1046/j.1523-1747.2002.00268.x. PMID: 12406339

Clinical prediction guides

Klein I, Bergman R, Indelman M, Sprecher E
J Invest Dermatol 2002 Oct;119(4):920-2. doi: 10.1046/j.1523-1747.2002.00268.x. PMID: 12406339

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