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We report the case of a 52-year-old female patient who suffered both from myotonic dystrophy (Curschmann-Steinert disease) and Melkersson-Rosenthal syndrome. Both syndromes showed the full-blown clinical features as well as the typical histology. In addition to the possibility that the appearance of the two syndromes together was a mere coincidence, we also consider the possibility that there was a hereditary diencephalic disorder present that linked together some of the minor manifestations of both syndromes.

The medical records of 73 unrelated patients with either complete or incomplete Melkersson-Rosenthal syndrome attending our department between 1967 and 1985 were analyzed, and 42 of them as well as 171 of their relatives were examined. Lingua plicata was seen in 10, and other features were detected in 6 of the 42 families. The limited frequency of signs characteristic for the syndrome in the relatives examined suggest a multifactorial origin including a genetic basis.

Apart from the apparent trias of oro-facial swellings, facial paresis, and lingua plicata (LP), Melkersson-Rosenthal syndrome (MRS) comprises a variety of complex signs and symptoms. During the last 18 years, 73 patients suffering from MRS were admitted to our hospital. Re-examination of 42 out of these patients and evaluation of all data available proved preceding facial paresis(es) in only 34% of all cases and LP of various degrees in 52%. In more than 80%, however, we found vasomotoric, sialo-secretory, or other neurovegetative "minor signs", locally and/or temporally connected with swellings of either skin or mucosa. Since such minor signs are essential for the diagnosis and the understanding of both "complete" and "incomplete" forms of MRS (either associated with or without typical cheilitis granulomatosa), we worked out a classification of MRS considering the dermal, neurological, and neurovegetative affections observed in our cases and according to the relevant literature. A systematic classification like this, which takes into account the diagnostic signification of the findings, allows exact recognition of "incomplete" forms of MRS and represents a conditio sine qua non with regard to family studies and the follow-up of patients concerned.

A five year old boy is reported with typical signs of Trisomy 8-Syndrome: long, narrow face, broad based nose, eversion of lower lip, microgeny, dysplastic ears, deep palmar and plantar furrows, scoliosis, and only mild retardation. The karyotype in 150 lymphocytes was normal. In fibroblast culture mosaicism was found: 46,XY/47,XY,+8.

27 patients suffering from Melkersson-Rosenthal syndrome (MRS) and 46 of their first degree relatives were investigated with special reference to histocompatibility standardization. In contrast to a control group of 223 healthy German volunteers, our MRS patients revealed high-yet statistically not significant-levels of HLA-B16 and HLA-Cw3 antigens.