Cutaneous hyperextensibililty in classical Ehlers–Danlos syndrome.
Extreme cutaneous fragility and laxity in dermatosparaxis.
Blue sclera in osteogenesis imperfecta.
Familial mandibuloacral dysplasia, showing the short club‐shaped terminal phalanges, the so‐called ‘tree‐frog’ appearance. (Courtesy of Dr A. M. Zina...
Right fundus showing angioid streaks radiating from the optic nerve in pseudoxanthoma elasticum. (Courtesy of Miss Louise Allen, Cambridge University...
Atrophic scarring of the elbow in classical Ehlers–Danlos syndrome.
Premature periodontal recession in periodontitis type Ehlers–Danlos syndrome (type VIII).
Autosomal dominant cutis laxa in a 13‐year‐old male. (Reproduced from Berk et al . 2012 [ ]. Reproduced with kind permission of Elsevier.)
Pseudoxanthoma elasticum, showing the typical ‘chicken skin’ appearance involving the neck.
Lipoid proteinosis. Typical ‘beaded’ papules present along the margins of the upper eyelids. (Courtesy of Dr R. C. D. Staughton, Chelsea and Westmins...
Scarring of the forehead in classical Ehlers–Danlos syndrome.
Pigmented pretibial plaques in periodontitis type Ehlers–Danlos syndrome (type VIII).
Autosomal recessive type IA cutis laxa due to FBLN5 mutation in a 4‐year‐old girl. Generalized loose skin affecting the trunk, limbs and most eviden...
Pseudoxanthoma elasticum of the axilla, showing the characteristic yellow discoloration of the skin and the loose folds. The changes in this condition...
Cutaneous atrophy in vascular (acrogeric) Ehlers–Danlos syndrome.
Pitted skin in prolidase deficiency. (Courtesy of Addenbrooke's Hospital, Cambridge, UK.)
Child with Williams–Beuren syndrome exhibiting later facial features of full cheeks and lips, periorbital puffiness and epicanthic folds. (Copyright o...
Left fundus showing angioid streaks at the macula which have caused deterioration of the central vision. A mottled appearance ‘peau d'orange’ can be s...