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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.
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Polyphagia
MedGen UID:
9369
Concept ID:
C0020505
Finding
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Red hair
MedGen UID:
66796
Concept ID:
C0239803
Finding
Hyperinsulinemia
MedGen UID:
43779
Concept ID:
C0020459
Disease or Syndrome
An increased concentration of insulin in the blood.

Professional guidelines

PubMed

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
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
Lin HY, Lin SP, Chuang CK, Chen MR, Yen JL, Lee YJ, Huang CY, Tsai LP, Niu DM, Chao MC, Kuo PL
Acta Paediatr 2007 Jun;96(6):902-5. doi: 10.1111/j.1651-2227.2007.00284.x. PMID: 17537021

Recent clinical studies

Etiology

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
Zhang L, Liu X, Zhao Y, Wang Q, Zhang Y, Gao H, Zhang B, Cui W, Zhao Y
Ital J Pediatr 2022 Jul 23;48(1):121. doi: 10.1186/s13052-022-01319-1. PMID: 35870983Free PMC Article
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
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
Al Houssien AO, Al Houssien RO, Al Ajroush W, Al Kahtani HS
Saudi Med J 2017 Apr;38(4):400-404. doi: 10.15537/smj.2017.4.17551. PMID: 28397947Free PMC Article

Diagnosis

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
Conic RZ, Tamashunas NL, Damiani G, Fabbrocini G, Cantelli M; Young Dermatologists Italian Network, Bergfeld WF
J Eur Acad Dermatol Venereol 2020 Dec;34(12):2898-2901. Epub 2020 Aug 6 doi: 10.1111/jdv.16727. PMID: 32531131
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
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
Libov AJ, Maino DM
J Am Optom Assoc 1994 May;65(5):355-9. PMID: 8071507

Therapy

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
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
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
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
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

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
El-Hawary M, El-Tahlawi S, Ibrahim S, El Ansary M, Mogawer RM
J Cosmet Dermatol 2022 Jul;21(7):2971-2976. Epub 2021 Oct 3 doi: 10.1111/jocd.14490. PMID: 34601796
Tanacan E, Atakan N
An Bras Dermatol 2020 Mar-Apr;95(2):165-172. Epub 2020 Feb 12 doi: 10.1016/j.abd.2019.07.006. PMID: 32113676Free PMC Article
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
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552

Clinical prediction guides

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
Hu Y, Chen J, Wang Y, Sun J, Huang P, Feng J, Liu T, Sun X
Cell Biol Int 2023 Mar;47(3):584-597. Epub 2022 Nov 15 doi: 10.1002/cbin.11959. PMID: 36378581
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
Hurren BJ, Flack NA
Clin Anat 2016 Jul;29(5):590-605. Epub 2016 Jan 29 doi: 10.1002/ca.22686. PMID: 26749552
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

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
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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