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Facial hirsutism

MedGen UID:
337950
Concept ID:
C1850041
Finding
Synonym: Excessive face hair
 
HPO: HP:0009937

Definition

Excess facial hair. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFacial hirsutism

Conditions with this feature

Mucopolysaccharidosis, MPS-III-D
MedGen UID:
88602
Concept ID:
C0086650
Disease or Syndrome
Mucopolysaccharidosis type III (MPS III) is a multisystem lysosomal storage disease characterized by progressive central nervous system degeneration manifest as severe intellectual disability (ID), developmental regression, and other neurologic manifestations including autism spectrum disorder (ASD), behavioral problems, and sleep disturbances. Disease onset is typically before age ten years. Disease course may be rapidly or slowly progressive; some individuals with an extremely attenuated disease course present in mid-to-late adulthood with early-onset dementia with or without a history of ID. Systemic manifestations can include musculoskeletal problems (joint stiffness, contractures, scoliosis, and hip dysplasia), hearing loss, respiratory tract and sinopulmonary infections, and cardiac disease (valvular thickening, defects in the cardiac conduction system). Neurologic decline is seen in all affected individuals; however, clinical severity varies within and among the four MPS III subtypes (defined by the enzyme involved) and even among members of the same family. Death usually occurs in the second or third decade of life secondary to neurologic regression or respiratory tract infections.
Fryns syndrome
MedGen UID:
65088
Concept ID:
C0220730
Disease or Syndrome
Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period is rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common.
Prolidase deficiency
MedGen UID:
120647
Concept ID:
C0268532
Disease or Syndrome
Prolidase deficiency is characterized by skin lesions (typically severe, chronic, recalcitrant, and painful skin ulcers of the lower extremities and telangiectasias of the face and hands), recurrent infections (particularly of the skin and respiratory tract), dysmorphic facial features, variable intellectual disability, and organomegaly (typically splenomegaly but occasionally associated with hepatomegaly) with elevated liver enzymes. Skeletal anomalies, chronic pulmonary disease, anemia, thrombocytopenia, hypergammaglobulinemia, and hypocomplementemia are observed in a minority of affected individuals. An association between prolidase deficiency and autoimmune conditions – particularly systemic lupus erythematosus (SLE) – has been described.
Pelviscapular dysplasia
MedGen UID:
342400
Concept ID:
C1850040
Disease or Syndrome
Syndrome with characteristics of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. The facial dysmorphism has manifestations of frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly. Mutations in the TBX15 gene have been identified as potentially causative. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
MedGen UID:
347666
Concept ID:
C1858562
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
MedGen UID:
1780615
Concept ID:
C5543591
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (NEDHFBA) is an autosomal recessive neurologic syndrome characterized by global developmental delay with severely impaired intellectual development, hypotonia and muscle weakness, often resulting in the inability to walk or sit, and characteristic coarse facial features. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia (summary by Loddo et al., 2020).

Professional guidelines

PubMed

Roche A, Sedgwick PM, Harland CC
Clin Exp Dermatol 2016 Apr;41(3):248-52. Epub 2015 Dec 1 doi: 10.1111/ced.12775. PMID: 26620607
Mohamed EE, Ahmed AM, Tawfik KM, Ibrahim SM
J Cosmet Dermatol 2016 Mar;15(1):31-5. Epub 2015 Jul 29 doi: 10.1111/jocd.12164. PMID: 26223429
Saberi P, Phengrasamy T, Nguyen DP
HIV Med 2013 Oct;14(9):519-29. Epub 2013 Apr 16 doi: 10.1111/hiv.12039. PMID: 23590676Free PMC Article

Recent clinical studies

Etiology

Lachure A, Dixit N, Debata I, Panda M, Jena AK, Raj C
Dermatol Ther 2022 Jul;35(7):e15509. Epub 2022 Apr 24 doi: 10.1111/dth.15509. PMID: 35419916
Jain T, Negris O, Brown D, Galic I, Salimgaraev R, Zhaunova L
Reprod Biol Endocrinol 2021 Mar 3;19(1):36. doi: 10.1186/s12958-021-00719-y. PMID: 33658043Free PMC Article
Zahoor H, Noor SM, Paracha MM
J Pak Med Assoc 2019 Jul;69(7):930-933. PMID: 31308556
Piérard-Franchimont C, Piérard GE
Biomed Res Int 2013;2013:957432. Epub 2013 Dec 24 doi: 10.1155/2013/957432. PMID: 24455742Free PMC Article
Shulman LH, DeRogatis L, Spielvogel R, Miller JL, Rose LI
J Am Acad Dermatol 1992 Aug;27(2 Pt 1):178-81. doi: 10.1016/0190-9622(92)70166-d. PMID: 1430353

Diagnosis

Jain T, Negris O, Brown D, Galic I, Salimgaraev R, Zhaunova L
Reprod Biol Endocrinol 2021 Mar 3;19(1):36. doi: 10.1186/s12958-021-00719-y. PMID: 33658043Free PMC Article
Lee CM
J Cosmet Laser Ther 2018 Jun;20(3):140-144. Epub 2017 Dec 8 doi: 10.1080/14764172.2017.1376099. PMID: 29020474
Piérard-Franchimont C, Piérard GE
Biomed Res Int 2013;2013:957432. Epub 2013 Dec 24 doi: 10.1155/2013/957432. PMID: 24455742Free PMC Article
Reisch N, Högler W, Parajes S, Rose IT, Dhir V, Götzinger J, Arlt W, Krone N
J Clin Endocrinol Metab 2013 Oct;98(10):E1620-5. Epub 2013 Aug 12 doi: 10.1210/jc.2013-1306. PMID: 23940125
Moreno-Arias G, Castelo-Branco C, Ferrando J
Dermatol Surg 2002 Nov;28(11):1013-6; discussion 1016. doi: 10.1046/j.1524-4725.2002.02101.x. PMID: 12460295

Therapy

Rashid R, Mir SA, Kareem O, Ali T, Ara R, Malik A, Amin F, Bader GN
Taiwan J Obstet Gynecol 2022 Jan;61(1):40-50. doi: 10.1016/j.tjog.2021.11.009. PMID: 35181044
Zahoor H, Noor SM, Paracha MM
J Pak Med Assoc 2019 Jul;69(7):930-933. PMID: 31308556
Lee CM
J Cosmet Laser Ther 2018 Jun;20(3):140-144. Epub 2017 Dec 8 doi: 10.1080/14764172.2017.1376099. PMID: 29020474
Drug Ther Bull 2007 Aug;45(8):62-4. doi: 10.1136/dtb.2007.45862. PMID: 17718095
Balfour JA, McClellan K
Am J Clin Dermatol 2001;2(3):197-201; discussion 202. doi: 10.2165/00128071-200102030-00009. PMID: 11705097

Prognosis

Jain T, Negris O, Brown D, Galic I, Salimgaraev R, Zhaunova L
Reprod Biol Endocrinol 2021 Mar 3;19(1):36. doi: 10.1186/s12958-021-00719-y. PMID: 33658043Free PMC Article
Vissing AC, Taudorf EH, Haak CS, Philipsen PA, Haedersdal M
J Eur Acad Dermatol Venereol 2016 Feb;30(2):314-9. Epub 2015 Oct 27 doi: 10.1111/jdv.13447. PMID: 26507926
Yucesoy G, Cakiroglu Y, Caliskan E
J Clin Ultrasound 2008 Jun;36(5):315-7. doi: 10.1002/jcu.20409. PMID: 17960800
Sudduth SL, Koronkowski MJ
Pharmacotherapy 1993 Jul-Aug;13(4):309-25; discussion 325-9. PMID: 7689728
Shulman LH, DeRogatis L, Spielvogel R, Miller JL, Rose LI
J Am Acad Dermatol 1992 Aug;27(2 Pt 1):178-81. doi: 10.1016/0190-9622(92)70166-d. PMID: 1430353

Clinical prediction guides

Lachure A, Dixit N, Debata I, Panda M, Jena AK, Raj C
Dermatol Ther 2022 Jul;35(7):e15509. Epub 2022 Apr 24 doi: 10.1111/dth.15509. PMID: 35419916
Jain T, Negris O, Brown D, Galic I, Salimgaraev R, Zhaunova L
Reprod Biol Endocrinol 2021 Mar 3;19(1):36. doi: 10.1186/s12958-021-00719-y. PMID: 33658043Free PMC Article
Roche A, Sedgwick PM, Harland CC
Clin Exp Dermatol 2016 Apr;41(3):248-52. Epub 2015 Dec 1 doi: 10.1111/ced.12775. PMID: 26620607
Moreno-Arias GA, Castelo-Branco C, Ferrando J
Dermatol Surg 2002 Dec;28(12):1131-4. doi: 10.1046/j.1524-4725.2002.02117.x. PMID: 12472492
Sudduth SL, Koronkowski MJ
Pharmacotherapy 1993 Jul-Aug;13(4):309-25; discussion 325-9. PMID: 7689728

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