Facial features of an 8‐year‐old boy with Hunter syndrome (MPS II).
Angiokeratoma corporis diffusum around the umbilicus in a man with Fabry disease.
Hyperkeratotic lesion on the palm of a child with tyrosinaemia type 2.(From Sarafoglou et al . 2009 [ ]. Reproduced with permission of McGraw Hill E...
Acrodermatitis enteropathica with typical eczematous skin lesions. The vermilion area is free, and the hair growth poor and sparse.
‘Pebbling’ of the skin and extensive Mongolian blue spot on the back of a boy with Hunter syndrome (MPS II). (From Wraith 2006 [ ]. Reproduced with p...
Angiokeratoma corporis diffusum showing dilated blood‐filled vessels in the papillary dermis.
Multiple ulcers with an unusual distribution associated with prolidase deficiency.
Infant with Menkes disease. (Courtesy of Dr A. Chakrapani, Birmingham Children's Hospital, Birmingham, UK.)
Angiokeratoma corporis diffusum on the limbs of a 7‐year‐old girl with fucosidosis.
Angiokeratoma corporis diffusum. Electron‐dense cytoplasmic inclusion bodies are present within the endothelial cells. (Courtesy of Dr P. H. McKee, K...
Pitted skin in prolidase deficiency. (Courtesy of Dr D. A. Burns, Leicester Royal Infirmary, Leicester, UK.)
Calcinosis knee of a child with normophosphataemic familial tumoral calcinosis.
The hand of a ‘collodion baby’ with Gaucher disease type II.
Fat pads over the iliac crests in a child with phosphomannomutase 2 deficiency. (Courtesy of Professor P. T. Clayton, Institute of Child Health, Lond...
Trichorrhexis nodosa in a 4‐year‐old with argininosuccinic aciduria. (Courtesy of Central Manchester University Hospitals NHS Foundation Trust, Manch...