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Hypertrichotic hyperpigmented patch

MedGen UID:
Concept ID:
Synonym: Cutaneous hyperpigmentation with overlying hypertrichosis
HPO: HP:0033190


A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypertrichotic hyperpigmented patch

Conditions with this feature

H syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC was described as an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012).

Professional guidelines


Zhou YJ, Zheng DL, Hamblin MR, Xu YD, Wen X
Dermatol Ther 2022 Jul;35(7):e15548. Epub 2022 May 12 doi: 10.1111/dth.15548. PMID: 35502558

Recent clinical studies


Ro YS, Ko JY
Cutis 2005 Feb;75(2):122-4. PMID: 15773534
Sidwell RU, Brueton LA, Grabczynska SA, Francis N, Staughton RC
J Am Acad Dermatol 2004 Feb;50(2 Suppl):S53-6. doi: 10.1016/s0190-9622(03)02466-6. PMID: 14726867


Zhou YJ, Zheng DL, Hamblin MR, Xu YD, Wen X
Dermatol Ther 2022 Jul;35(7):e15548. Epub 2022 May 12 doi: 10.1111/dth.15548. PMID: 35502558
Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, Zangen DH, Raas-Rothschild A, Ben-Neriah Z, Shweiki S, Elpeleg O, Zlotogorski A
J Am Acad Dermatol 2008 Jul;59(1):79-85. Epub 2008 Apr 14 doi: 10.1016/j.jaad.2008.03.021. PMID: 18410979
Ro YS, Ko JY
Cutis 2005 Feb;75(2):122-4. PMID: 15773534
Hsu S, Chen JY, Subrt P
J Am Acad Dermatol 2001 Dec;45(6 Suppl):S195-6. doi: 10.1067/mjd.2001.101882. PMID: 11712056
Kwon KS, Lee CW, Seo KH, Park JH, Oh CK, Jang HS, Chung TA
J Dermatol 2000 Jan;27(1):56-9. doi: 10.1111/j.1346-8138.2000.tb02120.x. PMID: 10692828


Ro YS, Ko JY
Cutis 2005 Feb;75(2):122-4. PMID: 15773534

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