Case report: a black and white twin.
Albinism is an autosomal recessive disorder that is caused by a defective synthesis of melanin, resulting in a generalized reduction of pigmentation in the skin, hair and eyes, and leading to an increased risk of skin cancer and vision problems. We report a case of a 22-year-old primigravida of Negroid origin who delivered dichorial diamniotic twins: two daughters were born with a totally different appearance. The first child had a light brown skin, black curly hair and brown eyes, whereas the second had a striking white skin, red-blond curly hair and blue eyes. Oculocutaneous albinism (OCA) and heteropaternal superfecundation were considered in the differential diagnosis. Genetic testing confirmed the diagnosis of OCA type 2 in the second child. The diagnosis of albinism has clinical implications and must be considered when a black and white twin is born.
Department of Obstetrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands. m.j.claas@umcutrecht.nl
M J
MJ
Claas
A
A
Timmermans
H W
HW
Bruinse
D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics; D044383:Black People; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D014429:Twins, Dizygotic / Q000235:genetics; D055815:Young Adult
D026901:Membrane Transport Proteins; C489600:OCA2 protein, human