| • | AKA hyalinosis cutis et mucosae |
| • | very rare, autosomal recessive |
| • | characterized by infiltration of hyaline material into the skin, oral cavity, larynx, and internal organs |
| • | usually presents in infancy with hoarseness |
| • | increased in South Africa |
| • | characteristic “beaded” papules present along margins of the eyelids |
diagnosis:
| • | hoarseness from early childhood, thickening and stiffening of the tongue, and characteristic cutaneous verrucous nodules on elbows knees, and hands makes the diagnosis relatively easy |
ddx:
| • | EPP – solar sensitivity; and scarred areas confined to exposed skin |
| • | histologically: xanthomatosis, amyloidosis |
| • | in adults: lichen myxedematosus, myxedema with hoarseness |
| • | waxy lesions of the skin: EPP |
not ddx (but one symptom overlap)
| • | hoarse voice: Dowling-Meara |
prognosis:
| • | chronic and benign course with normal life span |
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