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1.

Piebaldism

Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004). [from OMIM]

MedGen UID:
36361
Concept ID:
C0080024
Congenital Abnormality
2.

Piebald trait-neurologic defects syndrome

A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. [from SNOMEDCT_US]

MedGen UID:
358177
Concept ID:
C1868311
Disease or Syndrome
3.

Absent pigmentation of the ventral chest

Lack of skin pigmentation (coloring) of the anterior chest. [from HPO]

MedGen UID:
870403
Concept ID:
C4024848
Disease or Syndrome
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