Ultrastructure (EM) revealed highly ordered matrix deposits around microvessels, with frequently collapsed lumina, functionally compensated by increased vascular density (histology, IIF). [ncbi.nlm.nih.gov]

Biopsies from the eyelid, pharyngeal mucosa, and elbow lesions revealed diffuse amorphous deposits of hyaline material within the dermis and around blood vessels, which stained positively for periodic acid-Schiff, was diastase resistant and stained negatively [ncbi.nlm.nih.gov]

Biopsies from the eyelid, pharyngeal mucosa, and elbow lesions revealed diffuse amorphous deposits of hyaline material within the dermis and around blood vessels, which stained positively for periodic acid–Schiff, was diastase resistant and stained negatively [journals.lww.com]

Oral, pharyngeal and laryngeal manifestations in Urbach-Wiethe disease. Ann Clin Res 1977;9:1-7. 5. Al-Bitar Y, Samdani AJ. Lipoid proteinosis in two brothers with multiple organ involvement from Saudi Arabia. Int J Dermatol 2004;43:360-1. 6. [ijdvl.com]

Additional symptoms included beaded eyelid papules, macroglossia with yellowish papules, yellowish deposits of soft palate, papular eruption in the axillary area and tuberous nodules on the elbows. [histopathology-india.net]

[…] and inner canthus 1,3 alopecia may also eventually develop 1,3 head and neck initially, a hoarse cry in infancy due to vocal cord stiffening, this is often the first clinical feature of the disease 1,3 over time thickened white oral mucosa (causing macroglossia [radiopaedia.org]

[…] amyloidosis Hyperpigmented papulonodular eruptions occur, especially on the shins and upper limbs that may coalesce into thickened plaques A skin biopsy with Congo red stain helps in making the diagnosis Xanthomatosis Myxoedema hoarseness of voice, macroglossia [slideshare.net]

Lateral surface of his tongue showed clear indentations of the dentition, indicating macroglossia. The tongue was firm and woody in consistency, with no fibrotic bands on palpation. [jdrntruhs.org]

Physical examination revealed an otherwise healthy man with macroglossia, yellowish deposits on the tongue and soft palate, beaded papules on the thickened margins of the eyelids, yellowish papules in the axillae and nodules of variable sizes on both [medicaljournals.se]

Dolan, Amygdala control of emotion-induced forgetting and remembering: Evidence from Urbach-Wiethe disease, Neuropsychologia, 45, 5, (877), (2007). [oadoi.org]

“Amygdala control of emotion-induced forgetting and remembering: Evidence from Urbach-Wiethe disease,” Neuropsychologia. 2007; 45(5): 877-884. In article       View Article  PubMed  [48] Claeys K.G., Claes L.R.F., Van Goethem J.W.M., et al. [pubs.sciepub.com]

CONCLUSIONS: These individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously [ncbi.nlm.nih.gov]

Epidermodysplasia verruciformis (EV) is also a rare autosomal recessive genodermatosis involving susceptibility to human papillomavirus (HPV) infections and squamous cell carcinoma, caused in most cases by homozygous mutations in EVER1 or EVER2. [ncbi.nlm.nih.gov]