A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations.

Lipoid proteinosis (Urbach-Wiethe syndrome).

“…The pedigree indicates an autosomal recessive n of the eyelid (case III 2) inheritance to be the most likely in these families, the root of the eyelashes and this is in accordance with the findings of other se had the band of hyaliniinvestigators (Rosenthal and Duke, 1967, Gordon L 1 site of the ciliary margin et al., 1969al., , Juberg et al, 1975. Though there was ore advanced stages (Cases parental consanguinity, the parents seemed normal 5, III 8) did the papules and they had normal and affected offsprings.…”

Lipoid Proteinosis: A Follow‐Up Comment

“…Lipoid proteinosis affects both males and females equally, and parental consanguinity has been described in many earlier reports (2–5). Our report includes two male and two female siblings born to consanguineous parents and further supports the hypothesis of autosomal recessive inheritance.…”

Lipoid proteinozis (Urbach-Wiethe hastalığı): Nadir bir durum ve literatürün incelenmesi

“…[37][38][39][40] The classical histopathologic characteristics are pastel, eosinophilic, PAS(+) and hyaline-like material deposition in papillary dermis, dermo-epidermal composition, dermal veins around eccrine sweat glands, and in mucosa and visceral organs. [5,41] Although erythropoietic protoporphyria, popular mucinosis, lepra, amyloidosis and cutaneous xanthomonas are other entities that should be considered for diagnosis of this deposition observed in skin, voice hoarseness accompanying characteristic skin changes is accepted to be pathognomonic for LP. Among the histopathological findings, laryngeal amyloidosis is the one coming to the mind.…”