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Abnormal genital pigmentation

MedGen UID:
868566
•Concept ID:
C4022965
•
Anatomical Abnormality
HPO: HP:0012293

Definition

An abnormal pigmentation pattern of the external genitalia. [from HPO]

Professional guidelines

PubMed

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.
Gong LF, Gao X, Yang N, Zhao JQ, Yang HH, Kong YY
J Pediatr Endocrinol Metab 2019 Mar 26;32(3):253-258. doi: 10.1515/jpem-2018-0342. PMID: 30817302
Tissue expansion in management of failed phallic reconstruction: initial report of clinical series.
Mathews R, Nelson CP, Gearhart JP, Vander Kolk CA
Urology 2005 Jul;66(1):180-4. doi: 10.1016/j.urology.2005.01.063. PMID: 15992898
Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane.
Deviren A, Yalman N, Hacihanefioglu S
Ann Hematol 2003 Apr;82(4):223-7. Epub 2003 Mar 1 doi: 10.1007/s00277-003-0614-4. PMID: 12707724

Recent clinical studies

Etiology

Clinical characteristics of female patients diagnosed with congenital adrenal hyperplasia and plastic-esthetic related thoughts: a retrospective study.
Liao L, Sun M, Wang F, Pan S, Wu X, Huang X
Neuro Endocrinol Lett 2022 Dec 31;43(7-8):378-384. PMID: 36720126
Leopard syndrome: the potential cardiac defect underlying skin phenotypes.
Yue X, Zhao X, Dai Y, Yu L
Hereditas 2021 Sep 6;158(1):34. doi: 10.1186/s41065-021-00199-5. PMID: 34488904Free PMC Article
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB
Nat Genet 2019 Oct;51(10):1438-1441. Epub 2019 Sep 30 doi: 10.1038/s41588-019-0498-4. PMID: 31570889Free PMC Article
Eye development genes and known syndromes.
Slavotinek AM
Mol Genet Metab 2011 Dec;104(4):448-56. Epub 2011 Sep 29 doi: 10.1016/j.ymgme.2011.09.029. PMID: 22005280Free PMC Article
Familial recurrent atrial myxoma: Carney's complex.
Shetty Roy AN, Radin M, Sarabi D, Shaoulian E
Clin Cardiol 2011 Feb;34(2):83-6. doi: 10.1002/clc.20845. PMID: 21298650Free PMC Article

Diagnosis

Three cases of 3β-hydroxysteroid dehydrogenase deficiency: Clinical analysis.
Chen L, Huang H, Zhang H, Zhu G, Zhu M
Adv Clin Exp Med 2021 Mar;30(3):289-299. doi: 10.17219/acem/131220. PMID: 33757164
CHARGEd with neural crest defects.
Pauli S, Bajpai R, Borchers A
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):478-486. Epub 2017 Oct 30 doi: 10.1002/ajmg.c.31584. PMID: 29082625
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.
Salas-Labadía C, Cervantes-Barragán DE, Cruz-Alcívar R, Daber RD, Conlin LK, Leonard LD, Spinner NB, Durán-McKinster C, Dávila-Ortíz de Montellano DJ, Del Castillo-Ruiz V, Pérez-Vera P
Am J Med Genet A 2014 Jul;164A(7):1765-9. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36503. PMID: 24677512
A literature overview of primary cervical malignant melanoma: an exceedingly rare cancer.
Pusceddu S, Bajetta E, Carcangiu ML, Formisano B, Ducceschi M, Buzzoni R
Crit Rev Oncol Hematol 2012 Feb;81(2):185-95. Epub 2011 Apr 23 doi: 10.1016/j.critrevonc.2011.03.008. PMID: 21515070
Familial recurrent atrial myxoma: Carney's complex.
Shetty Roy AN, Radin M, Sarabi D, Shaoulian E
Clin Cardiol 2011 Feb;34(2):83-6. doi: 10.1002/clc.20845. PMID: 21298650Free PMC Article

Therapy

Dowling-Degos disease involving the vulva and back: case report and review of the literature.
Horner ME, Parkinson KE, Kaye V, Lynch PJ
Dermatol Online J 2011 Jul 15;17(7):1. PMID: 21810386
Endogenous ochronosis.
Turgay E, Canat D, Gurel MS, Yuksel T, Baran MF, Demirkesen C
Clin Exp Dermatol 2009 Dec;34(8):e865-8. doi: 10.1111/j.1365-2230.2009.03618.x. PMID: 20055850
Birthmarks and transient skin lesions in newborns and their relationship to maternal factors: a preliminary report from northern Italy.
Boccardi D, Menni S, Ferraroni M, Stival G, Bernardo L, La Vecchia C, Decarli A
Dermatology 2007;215(1):53-8. doi: 10.1159/000102034. PMID: 17587840
The association between clinical and pathological features in histologically identified chronic endometritis.
Heatley MK
J Obstet Gynaecol 2004 Oct;24(7):801-3. doi: 10.1080/01443610400009550. PMID: 15763793
Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.
Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K
J Clin Endocrinol Metab 2001 Nov;86(11):5498-508. doi: 10.1210/jcem.86.11.8058. PMID: 11701728

Prognosis

Leopard syndrome: the potential cardiac defect underlying skin phenotypes.
Yue X, Zhao X, Dai Y, Yu L
Hereditas 2021 Sep 6;158(1):34. doi: 10.1186/s41065-021-00199-5. PMID: 34488904Free PMC Article
A literature overview of primary cervical malignant melanoma: an exceedingly rare cancer.
Pusceddu S, Bajetta E, Carcangiu ML, Formisano B, Ducceschi M, Buzzoni R
Crit Rev Oncol Hematol 2012 Feb;81(2):185-95. Epub 2011 Apr 23 doi: 10.1016/j.critrevonc.2011.03.008. PMID: 21515070
Eye development genes and known syndromes.
Slavotinek AM
Mol Genet Metab 2011 Dec;104(4):448-56. Epub 2011 Sep 29 doi: 10.1016/j.ymgme.2011.09.029. PMID: 22005280Free PMC Article
Birthmarks and transient skin lesions in newborns and their relationship to maternal factors: a preliminary report from northern Italy.
Boccardi D, Menni S, Ferraroni M, Stival G, Bernardo L, La Vecchia C, Decarli A
Dermatology 2007;215(1):53-8. doi: 10.1159/000102034. PMID: 17587840
Monorchidism or unilateral anorchidism.
Lamesch AJ
Langenbecks Arch Chir 1994;379(2):105-8. PMID: 7910927

Clinical prediction guides

Three cases of 3β-hydroxysteroid dehydrogenase deficiency: Clinical analysis.
Chen L, Huang H, Zhang H, Zhu G, Zhu M
Adv Clin Exp Med 2021 Mar;30(3):289-299. doi: 10.17219/acem/131220. PMID: 33757164
Amniotic membrane and placental histopathological findings after open and fetoscopic prenatal neural tube defect repair.
Sanz Cortes M, Castro E, Sharhan D, Torres P, Yepez M, Espinoza J, Shamshirsaz AA, Nassr AA, Popek E, Whitehead W, Belfort MA
Prenat Diagn 2019 Mar;39(4):269-279. Epub 2019 Feb 10 doi: 10.1002/pd.5414. PMID: 30609053
Carney complex: Clinical and genetic 2010 update.
Vezzosi D, Vignaux O, Dupin N, Bertherat J
Ann Endocrinol (Paris) 2010 Dec;71(6):486-93. Epub 2010 Sep 17 doi: 10.1016/j.ando.2010.08.002. PMID: 20850710
Birthmarks and transient skin lesions in newborns and their relationship to maternal factors: a preliminary report from northern Italy.
Boccardi D, Menni S, Ferraroni M, Stival G, Bernardo L, La Vecchia C, Decarli A
Dermatology 2007;215(1):53-8. doi: 10.1159/000102034. PMID: 17587840
Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.
Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K
J Clin Endocrinol Metab 2001 Nov;86(11):5498-508. doi: 10.1210/jcem.86.11.8058. PMID: 11701728

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