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Absent pubic hair

MedGen UID:
349155
Concept ID:
C1859391
Finding
Synonym: No pubic hair
 
HPO: HP:0002555

Definition

Absence of pubic hair. [from HPO]

Term Hierarchy

Conditions with this feature

Hidrotic ectodermal dysplasia syndrome
MedGen UID:
56416
Concept ID:
C0162361
Disease or Syndrome
Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by a triad of major clinical features including partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Sweating is preserved and there are usually no dental anomalies. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is fine, sparse, and brittle. Progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity with age. Associated features may include cutaneous hyperpigmentation (particularly over the joints) and finger clubbing. The clinical manifestations are highly variable even within the same family.
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
MedGen UID:
120536
Concept ID:
C0265336
Disease or Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis, and recurrent bacterial and fungal infections. A subset of patients with KID may develop multiple cystic pilar tumors, which are prone to malignant transformation and metastasis (Nyquist et al., 2007). Vohwinkel syndrome (124500) is an allelic disorder involving congenital deafness with keratopachydermia and constrictions of fingers and toes. Another similar disorder caused by mutation in GJB2 is palmoplantar keratoderma with deafness (148350). Genetic Heterogeneity of Keratitis-Ichthyosis-Deafness Syndrome An autosomal recessive form of KID syndrome (KIDAR; 242150) is caused by mutation in the AP1B1 gene (600157) on chromosome 22q12.
Hypogonadotropic hypogonadism 12 with or without anosmia
MedGen UID:
347328
Concept ID:
C1856897
Disease or Syndrome
Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids. IGD is associated with a normal sense of smell (normosmic IGD) in approximately 40% of affected individuals and an impaired sense of smell (Kallmann syndrome) in approximately 60%. IGD can first become apparent in infancy, adolescence, or adulthood. Infant boys with congenital IGD often have micropenis and cryptorchidism. Adolescents and adults with IGD have clinical evidence of hypogonadism and incomplete sexual maturation on physical examination. Adult males with IGD tend to have prepubertal testicular volume (i.e., <4 mL), absence of secondary sexual features (e.g., facial and axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido, erectile dysfunction, and infertility. Adult females have little or no breast development and primary amenorrhea. Although skeletal maturation is delayed, the rate of linear growth is usually normal except for the absence of a distinct pubertal growth spurt.
Alopecia universalis congenita
MedGen UID:
349262
Concept ID:
C1859877
Congenital Abnormality
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.
Hypotrichosis 5
MedGen UID:
440568
Concept ID:
C2748535
Disease or Syndrome
Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by Zhang et al., 2012). For a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 (146550). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389.
Premature ovarian failure 7
MedGen UID:
414115
Concept ID:
C2751825
Disease or Syndrome
Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.
Epidermolysis bullosa, junctional 5A, intermediate
MedGen UID:
1811851
Concept ID:
C5676956
Disease or Syndrome
Intermediate junctional epidermolysis bullosa 5A (JEB5A) is an autosomal recessive blistering disease of skin and mucous membranes. Blistering is less severe than in severe JEB (see 226700). The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nails may be dystrophic and dental enamel defects are present. Blistering does not affect the life span of affected individuals (summary by Has et al., 2020). For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650). Reviews Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.

Professional guidelines

PubMed

Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL
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Recent clinical studies

Etiology

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Collins GM, Kim DU, Logrono R, Rickert RR, Zablow A, Breen JL
Mod Pathol 1993 Jan;6(1):89-93. PMID: 8093980

Diagnosis

Baldo F, Barbi E, Tornese G
Ital J Pediatr 2021 Sep 6;47(1):180. doi: 10.1186/s13052-021-01134-0. PMID: 34488834Free PMC Article
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Mittal A, Ray A, Talupula RM, Sood R
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Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679

Therapy

Kandasamy D, Malik R, Sharma R, Jana M
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Baldo F, Barbi E, Tornese G
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Velasco G, Savarese V, Sandorfi N, Jimenez SA, Jabbour S
Endocr Pract 2011 Jan-Feb;17(1):95-8. doi: 10.4158/EP10184.CR. PMID: 20841307

Prognosis

Kandasamy D, Malik R, Sharma R, Jana M
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Kandasamy D, Malik R, Sharma R, Jana M
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Wolff MS, Teitelbaum SL, Pinney SM, Windham G, Liao L, Biro F, Kushi LH, Erdmann C, Hiatt RA, Rybak ME, Calafat AM; Breast Cancer and Environment Research Centers
Environ Health Perspect 2010 Jul;118(7):1039-46. Epub 2010 Mar 22 doi: 10.1289/ehp.0901690. PMID: 20308033Free PMC Article
Bhangoo A, Aisenberg J, Chartoffe A, Ten S, Wallerstein RJ, Wolf R, Auchus RJ
J Pediatr Endocrinol Metab 2008 Feb;21(2):185-90. doi: 10.1515/jpem.2008.21.2.185. PMID: 18422032

Clinical prediction guides

Sathyanarayanan, Ramkumar, Dinesh S
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443324
Leung AK, Robson WL
J Pediatr Health Care 2008 Jul-Aug;22(4):230-3. Epub 2008 Mar 5 doi: 10.1016/j.pedhc.2007.07.002. PMID: 18590867
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
Taha D, Mullis PE, Ibáñez L, de Zegher F
Horm Res 2005;64(4):175-9. Epub 2005 Oct 4 doi: 10.1159/000088793. PMID: 16210857
Largo RH, Prader A
Helv Paediatr Acta 1983 Aug;38(3):229-43. PMID: 6618891

Recent systematic reviews

Terribile M, Stizzo M, Manfredi C, Quattrone C, Bottone F, Giordano DR, Bellastella G, Arcaniolo D, De Sio M
Medicina (Kaunas) 2019 Jul 12;55(7) doi: 10.3390/medicina55070371. PMID: 31336995Free PMC Article

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