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Obesity and hypopigmentation(OBHP)

MedGen UID:
1824062
•Concept ID:
C5774289
•
Disease or Syndrome
Synonym: OBHP
 
Monarch Initiative: MONDO:0859351
OMIM®: 620195

Definition

Obesity and hypopigmentation (OBHP) is characterized by early-onset severe obesity and hypopigmentation of the skin. Some affected individuals have red hair, and some experience increased appetite and exhibit reduced energy expenditure (Kempf et al., 2022). [from OMIM]

Clinical features

From HPO
Obesity
MedGen UID:
18127
•Concept ID:
C0028754
•
Disease or Syndrome
Accumulation of substantial excess body fat.
See: Feature record | Search on this feature
Overgrowth
MedGen UID:
376550
•Concept ID:
C1849265
•
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
See: Feature record | Search on this feature
Hepatic steatosis
MedGen UID:
398225
•Concept ID:
C2711227
•
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
See: Feature record | Search on this feature
Polyphagia
MedGen UID:
9369
•Concept ID:
C0020505
•
Finding
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
See: Feature record | Search on this feature
Red hair
MedGen UID:
66796
•Concept ID:
C0239803
•
Finding
See: Feature record | Search on this feature
Hyperinsulinemia
MedGen UID:
43779
•Concept ID:
C0020459
•
Disease or Syndrome
An increased concentration of insulin in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
Mao S, Yang L, Gao Y, Zou C
Clin Genet 2024 Apr;105(4):415-422. Epub 2024 Jan 23 doi: 10.1111/cge.14477. PMID: 38258470
Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.
Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.
Ge MM, Gao YY, Wu BB, Yan K, Qin Q, Wang H, Zhou W, Yang L
Mol Biol Rep 2019 Oct;46(5):4717-4724. Epub 2019 Jul 3 doi: 10.1007/s11033-019-04916-2. PMID: 31270759

Recent clinical studies

Etiology

Risk factors for cardiovascular diseases in patients with vitiligo: an analysis of current evidence.
Liang X, Guo F, Zhang M, Wang C, Lin N, Liu L, Chen Y, Liu F, Du Y, Li L, Li X
Ann Med 2024 Dec;56(1):2326297. Epub 2024 Sep 19 doi: 10.1080/07853890.2024.2326297. PMID: 39300810Free PMC Article
Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
Mao S, Yang L, Gao Y, Zou C
Clin Genet 2024 Apr;105(4):415-422. Epub 2024 Jan 23 doi: 10.1111/cge.14477. PMID: 38258470
Association of atopic dermatitis with autoimmune diseases: A bidirectional and multivariable two-sample mendelian randomization study.
Zhou W, Cai J, Li Z, Lin Y
Front Immunol 2023;14:1132719. Epub 2023 Mar 30 doi: 10.3389/fimmu.2023.1132719. PMID: 37063839Free PMC Article
Obesity in Childhood and Adolescence, Genetic Factors.
Kostovski M, Tasic V, Laban N, Polenakovic M, Danilovski D, Gucev Z
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):121-133. doi: 10.2478/prilozi-2018-0013. PMID: 29668472
Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.
Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B
Hum Genet 1995 Dec;96(6):638-43. doi: 10.1007/BF00210291. PMID: 8522319

Diagnosis

Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
Mao S, Yang L, Gao Y, Zou C
Clin Genet 2024 Apr;105(4):415-422. Epub 2024 Jan 23 doi: 10.1111/cge.14477. PMID: 38258470
Association of atopic dermatitis with autoimmune diseases: A bidirectional and multivariable two-sample mendelian randomization study.
Zhou W, Cai J, Li Z, Lin Y
Front Immunol 2023;14:1132719. Epub 2023 Mar 30 doi: 10.3389/fimmu.2023.1132719. PMID: 37063839Free PMC Article
Bier spots are an under-recognized cutaneous manifestation of lower extremity lymphedema: a case series and brief review of the literature.
Dean SM, Zirwas M
Ann Vasc Surg 2014 Nov;28(8):1935.e13-6. Epub 2014 Jul 10 doi: 10.1016/j.avsg.2014.07.005. PMID: 25017780
Common hyperpigmentation disorders in adults: Part II. Melanoma, seborrheic keratoses, acanthosis nigricans, melasma, diabetic dermopathy, tinea versicolor, and postinflammatory hyperpigmentation.
Stulberg DL, Clark N, Tovey D
Am Fam Physician 2003 Nov 15;68(10):1963-8. PMID: 14655805
Albinism: modern molecular diagnosis.
Carden SM, Boissy RE, Schoettker PJ, Good WV
Br J Ophthalmol 1998 Feb;82(2):189-95. doi: 10.1136/bjo.82.2.189. PMID: 9613388Free PMC Article

Therapy

Risk factors for cardiovascular diseases in patients with vitiligo: an analysis of current evidence.
Liang X, Guo F, Zhang M, Wang C, Lin N, Liu L, Chen Y, Liu F, Du Y, Li L, Li X
Ann Med 2024 Dec;56(1):2326297. Epub 2024 Sep 19 doi: 10.1080/07853890.2024.2326297. PMID: 39300810Free PMC Article
Dietary habits in adult Japanese patients with vitiligo.
Hamada R, Funasaka Y, Saeki H, Serizawa N, Hagino T, Yano Y, Mitsui H, Kanda N
J Dermatol 2024 Apr;51(4):491-508. Epub 2024 Feb 29 doi: 10.1111/1346-8138.17163. PMID: 38421796Free PMC Article
Association of atopic dermatitis with autoimmune diseases: A bidirectional and multivariable two-sample mendelian randomization study.
Zhou W, Cai J, Li Z, Lin Y
Front Immunol 2023;14:1132719. Epub 2023 Mar 30 doi: 10.3389/fimmu.2023.1132719. PMID: 37063839Free PMC Article
Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist.
Kühnen P, Clément K, Wiegand S, Blankenstein O, Gottesdiener K, Martini LL, Mai K, Blume-Peytavi U, Grüters A, Krude H
N Engl J Med 2016 Jul 21;375(3):240-6. doi: 10.1056/NEJMoa1512693. PMID: 27468060
The role of vitamin D in melanogenesis with an emphasis on vitiligo.
AlGhamdi K, Kumar A, Moussa N
Indian J Dermatol Venereol Leprol 2013 Nov-Dec;79(6):750-8. doi: 10.4103/0378-6323.120720. PMID: 24177606

Prognosis

Exploring the Role of Adipose Tissue Dysregulation in Vitiligo Pathogenesis: A Body Composition Analysis.
Shao X, Pan X, Chen T, Chen Z, Li Y, Zhong J, Wang R, Yu J, Chen J, Chen Y
Acta Derm Venereol 2024 Nov 19;104:adv41018. doi: 10.2340/actadv.v104.41018. PMID: 39560432Free PMC Article
Association of atopic dermatitis with autoimmune diseases: A bidirectional and multivariable two-sample mendelian randomization study.
Zhou W, Cai J, Li Z, Lin Y
Front Immunol 2023;14:1132719. Epub 2023 Mar 30 doi: 10.3389/fimmu.2023.1132719. PMID: 37063839Free PMC Article
Obesity in Childhood and Adolescence, Genetic Factors.
Kostovski M, Tasic V, Laban N, Polenakovic M, Danilovski D, Gucev Z
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):121-133. doi: 10.2478/prilozi-2018-0013. PMID: 29668472
Prader-Willi Syndrome: A spectrum of anatomical and clinical features.
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
The value of flash visual evoked potentials in albinism.
Fitzgerald K, Cibis GW
J Pediatr Ophthalmol Strabismus 1994 Jan-Feb;31(1):18-25. doi: 10.3928/0191-3913-19940101-05. PMID: 8195958

Clinical prediction guides

Risk factors for cardiovascular diseases in patients with vitiligo: an analysis of current evidence.
Liang X, Guo F, Zhang M, Wang C, Lin N, Liu L, Chen Y, Liu F, Du Y, Li L, Li X
Ann Med 2024 Dec;56(1):2326297. Epub 2024 Sep 19 doi: 10.1080/07853890.2024.2326297. PMID: 39300810Free PMC Article
Association of atopic dermatitis with autoimmune diseases: A bidirectional and multivariable two-sample mendelian randomization study.
Zhou W, Cai J, Li Z, Lin Y
Front Immunol 2023;14:1132719. Epub 2023 Mar 30 doi: 10.3389/fimmu.2023.1132719. PMID: 37063839Free PMC Article
No Association between Vitiligo and Obesity: A Case-Control Study.
Dragoni F, Conti R, Cazzaniga S, Colucci R, Pisaneschi L, Naldi L, Moretti S
Med Princ Pract 2017;26(5):421-426. Epub 2017 Sep 12 doi: 10.1159/000481436. PMID: 28903118Free PMC Article
Prader-Willi Syndrome: A spectrum of anatomical and clinical features.
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
The role of vitamin D in melanogenesis with an emphasis on vitiligo.
AlGhamdi K, Kumar A, Moussa N
Indian J Dermatol Venereol Leprol 2013 Nov-Dec;79(6):750-8. doi: 10.4103/0378-6323.120720. PMID: 24177606

Recent systematic reviews

Risk factors for cardiovascular diseases in patients with vitiligo: an analysis of current evidence.
Liang X, Guo F, Zhang M, Wang C, Lin N, Liu L, Chen Y, Liu F, Du Y, Li L, Li X
Ann Med 2024 Dec;56(1):2326297. Epub 2024 Sep 19 doi: 10.1080/07853890.2024.2326297. PMID: 39300810Free PMC Article
Association between vitiligo and relevant components of metabolic syndrome: a systematic review and meta-analysis.
Kang P, Zhang WG, Ji ZH, Shao ZJ, Li CY
J Dtsch Dermatol Ges 2022 May;20(5):629-641. Epub 2022 May 2 doi: 10.1111/ddg.14717. PMID: 35499212
Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.
Gregoric N, Groselj U, Bratina N, Debeljak M, Zerjav Tansek M, Suput Omladic J, Kovac J, Battelino T, Kotnik P, Avbelj Stefanija M
Front Endocrinol (Lausanne) 2021;12:689387. Epub 2021 Jun 9 doi: 10.3389/fendo.2021.689387. PMID: 34177811Free PMC Article

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