H syndrome

A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome.

Hallux valgus

Lateral deviation of the great toe (i.e., in the direction of the little toe).

合計: 6

（表示件数）

PMID (PMCID)
29527032 (5838761)	OTHER
	H Syndrome: A Case Report and Review of Literature.
	Meena D, Chauhan P, Hazarika N, Kansal NK. Indian J Dermatol. 2018;63(1):76-78.
	H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus.
30101042 (6082582)	OTHER
	The H Syndrome: A Genodermatosis.
	Bhatti S, Jamil A, Siddiqui SH, Yaqoob U, Virk LN, Bhatti A. Cureus. 2018;10(6):e2763.
	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions,as well as osteosclerosis, are also seen.
30101042 (6082582)	OTHER
	The H Syndrome: A Genodermatosis.
	Bhatti S, Jamil A, Siddiqui SH, Yaqoob U, Virk LN, Bhatti A. Cureus. 2018;10(6):e2763.
	H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures.Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions,as well as osteosclerosis, are also seen.
24547910	MALE	Middle Aged
	Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue.
	Molho-Pessach V, Mechoulam H, Siam R, Babay S, Ramot Y, Zlotogorski A. Ophthalmic Genet. 2015;36(4):365-8.
	The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/flexion contractures.
21178579	FEMALE
	A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.
	Avitan-Hersh E, Mandel H, Indelman M, Bar-Joseph G, Zlotogorski A, Bergman R. Am J Dermatopathol. 2011;33(1):47-51.
	H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin and systemic manifestations including hepatosplenomegaly, cardiac anomalies, hearing loss, hypogonadism, low height, hypertriglyceridemia, hallux valgus, and flexion contractures.
20199539	MALE	Young Adult
	H syndrome: novel and recurrent mutations in SLC29A3.
	Priya TP, Philip N, Molho-Pessach V, Busa T, Dalal A, Zlotogorski A. Br J Dermatol. 2010;162(5):1132-4.
	The H syndrome (OMIM 612391) is a recently described autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, short stature (low height), hyperglycaemia/diabetes mellitus, hallux valgus, and fixed flexion contractures of the toe and finger joints.