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Irregular hyperpigmentation

MedGen UID:
349760
Concept ID:
C1860236
Finding
HPO: HP:0007400

Conditions with this feature

WT limb-blood syndrome
MedGen UID:
231231
Concept ID:
C1327917
Disease or Syndrome
Syndrome is characterized by hematological anomalies (Fanconi anemia, leukemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.

Professional guidelines

PubMed

Ando H, Matsui MS, Ichihashi M
Int J Mol Sci 2010 Jun 18;11(6):2566-75. doi: 10.3390/ijms11062566. PMID: 20640168Free PMC Article

Recent clinical studies

Diagnosis

Kiryakoza LC, Diaz JD, Priluck J, Davis J, Yannuzzi NA
Ophthalmic Surg Lasers Imaging Retina 2022 Jun;53(6):350-353. Epub 2022 Jun 1 doi: 10.3928/23258160-20220604-01. PMID: 35724372
Fukushima S, Hatta N
Br J Dermatol 2004 Sep;151(3):698-700. doi: 10.1111/j.1365-2133.2004.06149.x. PMID: 15377362

Therapy

Fukushima S, Hatta N
Br J Dermatol 2004 Sep;151(3):698-700. doi: 10.1111/j.1365-2133.2004.06149.x. PMID: 15377362

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