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Osteoporosis-oculocutaneous hypopigmentation syndrome(OOCH)

MedGen UID:
331321
•Concept ID:
C1832592
•
Disease or Syndrome
Synonyms: OOCH syndrome; OSTEOPOROSIS AND OCULOCUTANEOUS HYPOPIGMENTATION SYNDROME
SNOMED CT: Osteoporosis and oculocutaneous hypopigmentation syndrome (722113001); Hernandez Fragoso syndrome (722113001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011020
OMIM®: 601220
Orphanet: ORPHA2786

Definition

Syndrome with characteristics of osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteoporosis-oculocutaneous hypopigmentation syndrome
Follow this link to review classifications for Osteoporosis-oculocutaneous hypopigmentation syndrome in Orphanet.

Professional guidelines

PubMed

Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach.
Zamani R, Shahkarami S, Rezaei N
Allergol Immunopathol (Madr) 2021;49(2):178-190. Epub 2021 Mar 1 doi: 10.15586/aei.v49i2.61. PMID: 33641308
Restorative oncodermatology: Diagnosis and management of dermatologic sequelae from cancer therapies.
Rossi AM, Hibler BP, Navarrete-Dechent C, Lacouture ME
J Am Acad Dermatol 2021 Sep;85(3):693-707. Epub 2020 Aug 8 doi: 10.1016/j.jaad.2020.08.005. PMID: 32781177Free PMC Article
Cutaneous Immune-Related Adverse Events (irAEs) to Immune Checkpoint Inhibitors: A Dermatology Perspective on Management [Formula: see text].
Muntyanu A, Netchiporouk E, Gerstein W, Gniadecki R, Litvinov IV
J Cutan Med Surg 2021 Jan-Feb;25(1):59-76. Epub 2020 Aug 3 doi: 10.1177/1203475420943260. PMID: 32746624

Recent clinical studies

Etiology

Atopic dermatitis and risk of autoimmune conditions: Population-based cohort study.
de Lusignan S, Alexander H, Broderick C, Dennis J, McGovern A, Feeney C, Flohr C
J Allergy Clin Immunol 2022 Sep;150(3):709-713. Epub 2022 Apr 22 doi: 10.1016/j.jaci.2022.03.030. PMID: 35469843
Immune checkpoint inhibitor-related dermatologic adverse events.
Geisler AN, Phillips GS, Barrios DM, Wu J, Leung DYM, Moy AP, Kern JA, Lacouture ME
J Am Acad Dermatol 2020 Nov;83(5):1255-1268. Epub 2020 May 23 doi: 10.1016/j.jaad.2020.03.132. PMID: 32454097Free 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
Albinism in Europe.
Mártinez-García M, Montoliu L
J Dermatol 2013 May;40(5):319-24. doi: 10.1111/1346-8138.12170. PMID: 23668539
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article

Diagnosis

Cutaneous adverse events caused by immune checkpoint inhibitors.
Quach HT, Johnson DB, LeBoeuf NR, Zwerner JP, Dewan AK
J Am Acad Dermatol 2021 Oct;85(4):956-966. Epub 2021 Jul 28 doi: 10.1016/j.jaad.2020.09.054. PMID: 34332798
Hermansky-Pudlak Syndrome.
De Jesus Rojas W, Young LR
Semin Respir Crit Care Med 2020 Apr;41(2):238-246. Epub 2020 Apr 12 doi: 10.1055/s-0040-1708088. PMID: 32279294
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article
Albinism.
Oetting WS
Curr Opin Pediatr 1999 Dec;11(6):565-71. doi: 10.1097/00008480-199912000-00016. PMID: 10590917
Albinism.
Kinnear PE, Jay B, Witkop CJ Jr
Surv Ophthalmol 1985 Sep-Oct;30(2):75-101. doi: 10.1016/0039-6257(85)90077-3. PMID: 3934778

Therapy

Cutaneous adverse events caused by immune checkpoint inhibitors.
Quach HT, Johnson DB, LeBoeuf NR, Zwerner JP, Dewan AK
J Am Acad Dermatol 2021 Oct;85(4):956-966. Epub 2021 Jul 28 doi: 10.1016/j.jaad.2020.09.054. PMID: 34332798
Cutaneous Immune-Related Adverse Events (irAEs) to Immune Checkpoint Inhibitors: A Dermatology Perspective on Management [Formula: see text].
Muntyanu A, Netchiporouk E, Gerstein W, Gniadecki R, Litvinov IV
J Cutan Med Surg 2021 Jan-Feb;25(1):59-76. Epub 2020 Aug 3 doi: 10.1177/1203475420943260. PMID: 32746624
Immune checkpoint inhibitor-related dermatologic adverse events.
Geisler AN, Phillips GS, Barrios DM, Wu J, Leung DYM, Moy AP, Kern JA, Lacouture ME
J Am Acad Dermatol 2020 Nov;83(5):1255-1268. Epub 2020 May 23 doi: 10.1016/j.jaad.2020.03.132. PMID: 32454097Free PMC Article
Dermatologic toxicities to immune checkpoint inhibitor therapy: A review of histopathologic features.
Ellis SR, Vierra AT, Millsop JW, Lacouture ME, Kiuru M
J Am Acad Dermatol 2020 Oct;83(4):1130-1143. Epub 2020 Apr 29 doi: 10.1016/j.jaad.2020.04.105. PMID: 32360716Free PMC Article
Therapeutic roles of curcumin: lessons learned from clinical trials.
Gupta SC, Patchva S, Aggarwal BB
AAPS J 2013 Jan;15(1):195-218. Epub 2012 Nov 10 doi: 10.1208/s12248-012-9432-8. PMID: 23143785Free PMC Article

Prognosis

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG
Ophthalmology 2022 Jun;129(6):708-718. Epub 2022 Feb 11 doi: 10.1016/j.ophtha.2022.02.010. PMID: 35157951Free PMC Article
Diagnostic and therapeutic caveats in Griscelli syndrome.
Castaño-Jaramillo LM, Lugo-Reyes SO, Cruz Muñoz ME, Scheffler-Mendoza SC, Duran McKinster C, Yamazaki-Nakashimada MA, Espinosa-Padilla SE, Saez-de-Ocariz Gutierrez MDM
Scand J Immunol 2021 Jun;93(6):e13034. Epub 2021 Mar 20 doi: 10.1111/sji.13034. PMID: 33660295
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free 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
Chediak-Higashi syndrome.
Kaplan J, De Domenico I, Ward DM
Curr Opin Hematol 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce. PMID: 18043242

Clinical prediction guides

Comorbidities in Patients with Vitiligo: A Systematic Review and Meta-Analysis.
Lee JH, Ju HJ, Seo JM, Almurayshid A, Kim GM, Ezzedine K, Bae JM
J Invest Dermatol 2023 May;143(5):777-789.e6. Epub 2022 Nov 28 doi: 10.1016/j.jid.2022.10.021. PMID: 36574529
Cutaneous adverse events caused by immune checkpoint inhibitors.
Quach HT, Johnson DB, LeBoeuf NR, Zwerner JP, Dewan AK
J Am Acad Dermatol 2021 Oct;85(4):956-966. Epub 2021 Jul 28 doi: 10.1016/j.jaad.2020.09.054. PMID: 34332798
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
Therapeutic roles of curcumin: lessons learned from clinical trials.
Gupta SC, Patchva S, Aggarwal BB
AAPS J 2013 Jan;15(1):195-218. Epub 2012 Nov 10 doi: 10.1208/s12248-012-9432-8. PMID: 23143785Free PMC Article
Chediak-Higashi syndrome.
Kaplan J, De Domenico I, Ward DM
Curr Opin Hematol 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce. PMID: 18043242

Recent systematic reviews

Ocular manifestations of vitiligo: a systematic review.
LeWitt T, Tauscher R, Obiofuma G, Peterson J, Haddadin R, Kundu RV
BMC Ophthalmol 2023 Mar 27;23(1):120. doi: 10.1186/s12886-023-02777-9. PMID: 36973683Free PMC Article
Comorbidities in Patients with Vitiligo: A Systematic Review and Meta-Analysis.
Lee JH, Ju HJ, Seo JM, Almurayshid A, Kim GM, Ezzedine K, Bae JM
J Invest Dermatol 2023 May;143(5):777-789.e6. Epub 2022 Nov 28 doi: 10.1016/j.jid.2022.10.021. PMID: 36574529
The efficacy and safety of pirfenidone in the treatment of HPS-related pulmonary fibrosis and Idiopathic pulmonary fibrosis: a systematic review and meta-analysis.
Ma YJ, Zhang Q, Wang CX, Wu W
Eur Rev Med Pharmacol Sci 2022 Nov;26(22):8411-8424. doi: 10.26355/eurrev_202211_30377. PMID: 36459024
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
The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.
Obeng-Tuudah D, Hussein BA, Hakim A, Gomez K, Abdul Kadir R
Int J Gynaecol Obstet 2021 Sep;154(3):412-426. Epub 2021 Mar 9 doi: 10.1002/ijgo.13632. PMID: 33521972

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