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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

Fig. 1

Clinical presentation of dyschromatosis symmetrica hereditaria (DSH) patients. a.. Freckle-like pigmented macules on the face (proband of family 3, severe phenotype). b. Freckle-like pigmented macules on the face of the proband in family 7. c. No freckle-like macules on the face of the patient II:3 in family 7. d. Dense freckle-like macules on the neck and face (proband of family 2, severe phenotype). e. Freckle-like pigmented macules on the face of the sporadic 2. f. Hypopigmented and hyperpigmented macules on the dorsal aspects of the extremities of hands and feet (proband of family 3, severe phenotype). g. Hypopigmented and hyperpigmented macules on the dorsal aspects of hands of the proband in family 7 (mild phenotype). h. No any lesion on the dorsal aspect of hand of the patient II:2 in family 7. i, j. Hypopigmented and hyperpigmented macules on the dorsal aspect of the hand (the patient II:3 in family 7 and the proband in family 2 , severe phenotype). k. Hypopigmented and hyperpigmented macules on the dorsal aspect of the hand of the sporadic 2. l. Few small freckle-like pigmented macules disturbed on the back of the foot (the patient II:2 in family 7). m, n. Hypopigmented and hyperpigmented macules on the back of the foot (the patient II:3 in family 7 and the proband in family 2, severe phenotype). o. Few small freckle-like pigmented macules disturbed on the back of the foot (the sporadic 2, mild phenotype)

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