U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital, generalized hypertrichosis

MedGen UID:
1807304
Concept ID:
C5574955
Disease or Syndrome
Synonyms: Congenital generalised hypertrichosis; Congenital generalized hypertrichosis; Congenital, generalised hypertrichosis; Hypertrichosis universalis
SNOMED CT: Congenital generalized hypertrichosis (838368005)
 
HPO: HP:0004540

Definition

A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital, generalized hypertrichosis

Conditions with this feature

Hypertrichosis lanuginosa congenita
MedGen UID:
66727
Concept ID:
C0235864
Congenital Abnormality
Congenital hypertrichosis lanuginosa is a rare disorder characterized by excessive lanugo hair present at birth covering the entire body surface except the mucosae, palms, and soles (summary by De Raeve and Keymolen, 2011).
Hypertrichotic osteochondrodysplasia Cantu type
MedGen UID:
208647
Concept ID:
C0795905
Disease or Syndrome
Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with full lips and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and in many, a large patent ductus arteriosus (PDA) requiring repair; and skeletal abnormalities (thickening of the calvaria, broad ribs, scoliosis, and flaring of the metaphyses). Other cardiovascular abnormalities may include dilated aortic root and ascending aorta with rare aortic aneurysm, tortuous vascularity involving brain and retinal vasculature, and pulmonary arteriovenous communications. Generalized edema (which may be present at birth) spontaneously resolves; peripheral edema of the lower extremities (and sometimes arms and hands) may develop at adolescence. Developmental delays are common, but intellect is typically normal; behavioral problems can include attention-deficit/hyperactivity disorder, autism spectrum disorder, obsessive-compulsive disorder, anxiety, and depression.
Ambras type hypertrichosis universalis congenita
MedGen UID:
333542
Concept ID:
C1840362
Disease or Syndrome
Hypertrichosis is defined as hair growth that is excessive for a particular site of the body or age of the patient and that is not hormone-dependent (summary by Fantauzzo et al., 2012). Genetic Heterogeneity of Congenital Generalized Hypertrichosis HTC1 has been mapped to chromosome 8q. HTC2 (307150) is caused by palindrome-mediated interchromosomal insertion at chromosome Xq27. HTC3 (135400), which can occur with or without associated gingival hyperplasia, is caused by deletion or duplication at chromosome 17q24 or by mutation in the ABCA5 gene (612503) on chromosome 17q24. Also see lanugo-like generalized congenital hypertrichosis (145700).
Gingival fibromatosis-hypertrichosis syndrome
MedGen UID:
342675
Concept ID:
C1851120
Disease or Syndrome
Extreme hirsutism with gingival fibromatosis follows a dominant pattern of inheritance (Weski, 1920; Garn and Hatch, 1950). There is no necessary relationship between the age of development of the gingival changes and the hypertrichosis. The latter may be present at birth but often appears at puberty (Anderson et al., 1969). For a discussion of genetic heterogeneity of congenital generalized hypertrichosis, see HTC1 (145701).
X-linked congenital generalized hypertrichosis
MedGen UID:
341002
Concept ID:
C1855900
Disease or Syndrome
X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.

Professional guidelines

PubMed

Jahnke MN, O'Haver J, Gupta D, Hawryluk EB, Finelt N, Kruse L, Jen M, Horii KA, Frieden IJ, Price H, Coughlin CC
Pediatrics 2021 Dec 1;148(6) doi: 10.1542/peds.2021-051536. PMID: 34845496
Vasko A, Drivas TG, Schrier Vergano SA
Genes (Basel) 2021 Jun 19;12(6) doi: 10.3390/genes12060937. PMID: 34205270Free PMC Article
Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G
Orphanet J Rare Dis 2015 Sep 17;10:115. doi: 10.1186/s13023-015-0336-4. PMID: 26381864Free PMC Article

Recent clinical studies

Etiology

Balaji P, Balaji SM
Indian J Dent Res 2017 Jul-Aug;28(4):457-460. doi: 10.4103/ijdr.IJDR_367_17. PMID: 28836540
Chen W, Ring J, Happle R
Eur J Dermatol 2015 May-Jun;25(3):223-7. doi: 10.1684/ejd.2015.2529. PMID: 25961852
Douzgou S, Mingarelli R, Dallapiccola B
Clin Dysmorphol 2009 Oct;18(4):205-8. doi: 10.1097/MCD.0b013e32832dc393. PMID: 19625955

Diagnosis

Giacaman A, Corral-Magaña O, Saus Sarrias C, González-López G, Asensio Landa VJ, Martín-Santiago A
Pediatr Dermatol 2024 Mar-Apr;41(2):307-310. Epub 2023 Oct 10 doi: 10.1111/pde.15436. PMID: 37817291
Mo R, Xu Z, Wang H, Yan W, Jiang X, Lin Z
JAMA Dermatol 2021 Jun 1;157(6):733-735. doi: 10.1001/jamadermatol.2021.0748. PMID: 33881458
Ishita A, Sujatha GP, Pramod GV, Ashok L
J Indian Soc Pedod Prev Dent 2016 Apr-Jun;34(2):189-91. doi: 10.4103/0970-4388.180452. PMID: 27080973
Afifi HH, Fukai R, Miyake N, Gamal El Din AA, Eid MM, Eid OM, Thomas MM, El-Badry TH, Tosson AM, Abdel-Salam GM, Matsumoto N
Am J Med Genet A 2015 Oct;167A(10):2418-24. Epub 2015 May 31 doi: 10.1002/ajmg.a.37185. PMID: 26033841
Guevara-Sanginés E, Villalobos A, Vega-Memije ME, Mosqueda-Taylor A, Canún-Serrano S, Lacy-Niebla RM
Pediatr Dermatol 2002 Mar-Apr;19(2):114-8. doi: 10.1046/j.1525-1470.2002.00055.x. PMID: 11994171

Prognosis

Pavone P, Praticò AD, Falsaperla R, Ruggieri M, Zollino M, Corsello G, Neri G
Ital J Pediatr 2015 Aug 5;41:55. doi: 10.1186/s13052-015-0161-3. PMID: 26242548Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...