OVERVIEW: What every practitioner needs to know Are you sure your patient has an ectodermal dysplasia? What are the typical findings for this disease? There are more than 200 ectodermal dysplasias, and they are defined by abnormalities in two or more ectodermal derivatives, including the skin, hair, nails, and teeth. The most common type of…
Are You Confident of the Diagnosis? p63 disorders are allelic and include ankyloblepharon-ectodermal defects-clefting (AEC) syndrome, ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, split hand/foot malformation, acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome, limb-mammary syndrome, Rapp Hodgkin syndrome, and nonsyndromic orafacial clefting. AEC syndrome is also known as Hay-Wells syndrome. Rapp Hodgkin is now felt to represent a variable manifestation of…
Are You Confident of the Diagnosis? What to be alert for in the history –Abnormally thick and wiry hair in infancy –Progressive alopecia with age –Progressively dystrophic nails –Palmoplantar changes –Painful, swollen distal digits –Normal sweating ability –Normal teeth Characteristic findings on clinical examination Nail findings –Milky white nail plates in childhood –Nail plates become…
