Typical body and limb pattern of hypopigmentation in piebaldism.
(a,b) Oculocutaneous albinism type 1B (OCA1B) and siblings/family. (a) The children in the centre and on the right are affected; the child on the left...
(a,b) Albinism–deafness syndrome. (Courtesy Dr Odile Enjolras.)
Dystrophic teeth in the carrier mother of a child with incontinentia pigmenti.
(a,b) Dyschromatosis universalis hereditaria (molecular diagnosis not done).
Partial repigmentation pattern on the legs in piebaldism.
(a) Oculocutaneous albinism type 1A (OCA1A) at birth and (b) later in the same child.
Hypomelanosis of Ito.
Nail dystrophy of incontinentia pigmenti.
(a–c) Reticulate hyperpigmentation of Kitamura. (Courtesy of Dr H. Ujiie and Professor H. Shimizu.) Molecular diagnosis was confirmatory.
(a) Note the mosaic pattern on the trunk in piebaldism; (b) detail of repigmentation pattern (leg).
Oculocutaneous albinism type 2 (OCA2) in infant (shown with mother).
Linear and whorled naevoid hypermelanosis.
Cicatricial alopecia of incontinentia pigmenti.
Peutz–Jeghers–Touraine syndrome. Lentigines on the lower lip of a 2‐year‐old girl.
Typical facial dysmorphic features (a) and supernumerary ribs (b) in Waardenburg syndrome.
Chédiak–Higashi syndrome after successful bone marrow transplantation: mild mental retardation and hair pigment dilution.
(a) Incontinentia pigmenti, vesiculobullous stage, frequently wrongly diagnosed as bullous impetigo. (b) Verrucous stage. (c) Pigmentary stage, with a...
Naegeli–Franceschetti–Jadassohn syndrome: case of the original family. (Courtesy of P. Itin.)
(a,b) Dyschromatosis symmetrica hereditaria. (Courtesy of Dr H. Ujiie and Professor H. Shimizu.) Molecular diagnosis was confirmatory.