Late onset hyalinosis cutis et mucosae

Two cases of non-familial, late onset (50 and 62-years-old) hyalinosis cutis et mucosae were studied and compared with classical early onset cases. Late onset cases showed essentially the same histological and ultrastructural features described for early onset cases. The late onset variety should be distinguished from other diseases; they resemble systemic amyloidosis and sometimes the adult form of colloid milium.     

Systemic hyalinosis or juvenile hyaline fibromatosis

Summary Biochemical examinations of a hyalinized skin tumor of systemic hyalinosis (juvenile hyaline fibromatosis) revealed an increase in chondroitin sulfate synthesis by skin fibroblasts with an enlarged, rough surfaced endoplasmic reticulum as well as an increase in chondroitin sulfate content. These results indicate that systemic hyalinosis is a connective tissue disorder characterized by abnormal GAG synthesis of fibroblasts.Supported by Grant-in-Aid for Co-operative Research from the Ministry of Education, Science and Culture, Japan     

Systemic hyalinosis (juvenile hyaline fibromatosis)

Summary Systematic hyalinosis (juvenile hyaline fibromatosis) is characterized by hyalinized skin lesions. Electron microscopic examination of a hyalinized skin tumor from a 19-year-old man with this syndrome revealed that the hyaline was composed of ruthenium red-positive ultrastructures (granules, filaments, and a kind of cross-banded structure), indicating the presence of glycosaminoglycan or glycoprotein, and a small number of thin collagen fibrits. Using a new ruthenium red staining method combined with an enzymatic digestion procedure, it was demonstrated that the cross-banded structure and granules consisted of chondroitin sulfate-proteoglycan and/or glycoprotein, and that the cross-banded structure is probably a noncollageneous aggregate of the granules attached to the parallel-arranged filaments of hyaluronic acid-like nature.Supported by Research grants from the Ministry of Education, Japan     

Centrofacial hyalinosis

The changes to the center facial skin of a 65-year-old patient caused by hyalinosis were largely reversed by excising the hyaline material. There has been no remission so far. In this case the histological and electron-microscopical findings suggest that poor vascular circulation was primarily responsible for the formation of hyalin.     

Cutaneomucous hyalinosis in monozygotic twins

Two Urbach-Wiethe disease cases in both univitelline twins sisters, 8 years old, are presented. Consanguinity is demonstrated in their parents and we consider this to be the second study of this type described in Spain and the first one in the world with such genetic features. We emphasize the early process apparition--just after birth--clinically characterised only by hoarseness. In consecutive years, both sisters developed varioliform scars on elbows, knees, and forehead and induration of lips on their mucous surface and palpebral margins. The histological and ultrastructural findings superposed in both patient--typical and confirmatory of the clinical picture--are commented as well as present histopathogenetic interpretations.     

Immediate and delayed onset "skip area" dermatitis presumed secondary to topical phenol exposure

A 21-year-old man was in brief accidental skin contact with epoxy resin stripper containing 10% phenol. He developed a painful, superficial necrotic eruption which slowly extended proximally without any further contact with the chemical, leaving skip areas of normal skin. About 3 and 7 months later he reported spontaneous flares within the area of original contact. Gradual release from an initially formed phenol-protein complex is thought to be responsible for the progression beyond the contact area and the delayed reaction.     

Infantile systemic hyalinosis: Case report and review of the literature

Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.     

Acquired hyalinosis cutis et mucosae in plasmacytoma with monoclonal IgG-lambda gammopathy

A 66-year-old female patient developed within 2 years clinical symptoms of hyalinosis cutis et mucosae due to a plasmocytoma with monoclonal IgG-light-chain gammopathy. The clinical diagnosis was supported by light- and electron-microscope studies. The form of hyalinosis cutis et mucosae described by Urbach and Wiethe is a genetic disease with its onset in early childhood. For this reason, we propose the designation "acquired hyalinosis cutis et mucosae" for the case reported here.     

Ultrastructure and composition of connective tissue in hyalinosis cutis et mucosae skin

Skin biopsies from a patient with hyalinosis cutis et mucosae (HCM) were studied by routine histology, electron microscopy, biochemical extractions, and immunofluorescence for extracellular matrix proteins. The upper dermis consisted of large hyaline regions mainly composed of noncollagenous proteins. A portion of this material was solubilized by reduction in 8 M urea. Anti-sera against these proteins revealed multiple antigens most of which were also detectable in normal skin. The hyaline regions showed a reduced content of collagens, particularly of thick fibrils and of fibronectin. The basal lamina around capillaries and at the dermal-epidermal junction appeared as multiple, concentric layers of amorphous laminae intercalated with thin collagen fibrils. They consisted of collagens type III and IV and of laminin as shown by immunofluorescence. Antibodies could also be raised against laminin of HCM skin which showed strong cross-reactions with authentic mouse laminin. Cultured fibroblasts from the HCM lesion showed increased synthesis of noncollagenous proteins at the expense of newly synthesized collagens. Some but not all of these noncollagenous proteins were also produced by fibroblasts from normal skin. The above data indicate that the hyaline material in HCM originates from the overproduction of noncollagenous proteins, most of which are normal constituents of human skin.     

Multiple application delayed onset contact urticaria: possible relation to certain unusual formalin and textile reactions?

An unusual type of contact urticaria to formalin is described, based on J patients and experiments in 14 volunteers. Tin; contact urticaria appeared on healthy skin only following repeated open applications or after a single application on slightly diseased skin. The possible relation of this phenomenon for patients claiming textile intolerance is discussed. Further tests are required to reveal the mechanism of this delayed onset contact urticaria to formalin.