H Syndrome: A Case Report and Review of Literature

被引：17

作者：

Meena, Dilip ^{[1
]}

Chauhan, Payal ^{[1
]}

Hazarika, Neirita ^{[1
]}

Kansal, Naveen Kumar ^{[1
]}

机构：

[1] All India Inst Med Sci, Dept Dermatol Venereol & Leprol, Rishikesh, Uttarakhand, India

来源：

INDIAN JOURNAL OF DERMATOLOGY | 2018年 / 63卷 / 01期

关键词：

Genodermatosis; h syndrome; histiocytosis; DIABETES-MELLITUS; HYPERPIGMENTATION;

D O I：

10.4103/ijd.IJD_264_17

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

引用

页码：76 / 78

页数：3

共 10 条

[1] A Case of H Syndrome Showing Immunophenotye Similarities to Rosai-Dorfman Disease [J].

Avitan-Hersh, Emily ;

Mandel, Hanna ;

Indelman, Margarita ;

Bar-Joseph, Gad ;

Zlotogorski, Abraham ;

Bergman, Reuven .

AMERICAN JOURNAL OF DERMATOPATHOLOGY, 2011, 33 (01) :47-51

[2] Diabetes mellitus may be the earliest and sole manifestation of the H syndrome [J].

Broshtilova, V. ;

Ramot, Y. ;

Molho-Pessach, V. ;

Zlotogorski, A. .

DIABETIC MEDICINE, 2009, 26 (11) :1179-1180

[3] Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome [J].

Hussain, Khalid ;

Padidela, Raja ;

Kapoor, Ritika R. ;

James, Chela ;

Banerjee, Kausik ;

Harper, John ;

Wilson, Louise C. ;

Hennekam, Raoul C. M. .

PEDIATRIC DIABETES, 2009, 10 (03) :193-197

[4]

Mehta S., 2015, Indian J Paediatr Dermatol, V16, P102

[5] The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3 [J].

Molho-Pessach, Vered ;

Lerer, Israela ;

Abeliovich, Dvorah ;

Agha, Ziad ;

Abu Libdeh, Abdulasalam ;

Broshtilova, Valentina ;

Elpeleg, Orly ;

Zlotogorski, Abraham .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (04) :529-534

[6] The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations [J].

Molho-Pessach, Vered ;

Agha, Ziad ;

Aamar, Suhail ;

Glaser, Benjamin ;

Doviner, Victoria ;

Hiller, Nurith ;

Zangen, David Haim ;

Raas-Rothschild, Annick ;

Ben-Neriah, Ziva ;

Shweiki, Shaher ;

Elpeleg, Orly ;

Zlotogorski, Abraham .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2008, 59 (01) :79-85

[7] Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue [J].

Molho-Pessach, Vered ;

Mechoulam, Hadas ;

Siam, Rula ;

Babay, Sofia ;

Ramot, Yuval ;

Zlotogorski, Abraham .

OPHTHALMIC GENETICS, 2015, 36 (04) :365-368

[8] H syndrome: The first 79 patients [J].

Molho-Pessach, Vered ;

Ramot, Yuval ;

Camille, Frances ;

Doviner, Victoria ;

Babay, Sofia ;

Luis, Siekavizza Juan ;

Broshtilova, Valentina ;

Zlotogorski, Abraham .

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2014, 70 (01) :80-88

[9] Agenesis of the Inferior Vena Cava in H Syndrome Due to a Novel SLC29A3 Mutation [J].

Mutlu, Gul Yesiltepe ;

Ramot, Yuval ;

Babaoglu, Kadir ;

Altun, Gurkan ;

Zlotogorski, Abraham ;

Molho-Pessach, Vered .

PEDIATRIC DERMATOLOGY, 2013, 30 (05) :E70-E73

[10] H Syndrome: A Multifaceted Histiocytic Disorder with Hyperpigmentation and Hypertriehosis [J].

Tekin, Burak ;

Atay, Zeynep ;

Ergun, Tulin ;

Can, Meryem ;

Tuney, Davut ;

Babay, Sofia ;

Turan, Serap ;

Bereket, Abdullah ;

Zlotogorski, Abraham ;

Molho-Pessach, Vered .

ACTA DERMATO-VENEREOLOGICA, 2015, 95 (08) :1021-1023

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