Kaori Yago

Case report: Adult phenotype of Mulvihill–Smith syndrome†

Mulvihill–Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28‐year‐old woman with Mulvihill–Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K‐complexes, persisting muscle tone, and loss of slow wave sleep. The clinical and neurophysiological studies are compatible with agrypnia excitata, a sleep disorder attributable to a dysfunction of the thalamo‐limbic system. Brain magnetic resonance imaging and single photon emission computed tomography revealed structural and functional deficits in the dorsomedial region of the thalamus and indicated that an alteration in the thalamo‐limbic system may underlie the sleep disturbances in MSS. Furthermore, the rapid and severe decline in acquired cognitive function showed the distinct cognitive impairments resembling dementia, including intellectual deficits, memory disorder and executive dysfunction. We posit that an early onset tumor, sleep disorder and cognitive decline are adult manifestations of Mulvihill–Smith syndrome. Am. J. Med. Genet.

Laugier-Hunziker-Baran syndrome

OBJECTIVE Laugier-Hunziker-Baran syndrome represents a rare acquired pigmentary disorder which has no relevance to internal disorders and has no familial association. There are few reports on histopathologic studies of this syndrome concerning Japanese individuals. The differential diagnosis of oral and pigmented lesions between Laugier-Hunziker-Baran syndrome and other disorders, Peutz-Jeghers syndrome in particular, requires our utmost consideration. STUDY DESIGN Biopsy specimens of 2 cases were taken from pigmented maculae on the lower lips, buccal mucosa, tongue, and palate. RESULTS Similar histopathologic findings were observed for all locations. The histopathologic examination showed that there was an accumulation of melanin in the basal layer as well as an increase in the number of melanophages in the subepithelial area. CONCLUSIONS Oral scientists and clinicians must be familiar with Laugier-Hunziker-Baran syndrome, because this syndrome is probably more common than is generally recognized.

Draining orocutaneous fistula associated with a failing subperiosteal implant: report of a case.

The use of mandibular subperiosteal implants was first reported by Dahl in the 1940s. It was followed by a more comprehensive report by Goldberg and Gershkoff, who published the first case series in the United States. We describe a case of an orocutaneous fistula that developed secondary to a chronic infection attributed to a failing subperiosteal implant. Elemental analysis of the metal framework revealed an implant composed of mainly a cobalt-chromium alloy. Cobalt, which was frequently used in subperiosteal implant manufacturing, is associated with a higher corrosion rate than other metals and is no longer used to fabricate subperiosteal implants. The strength of subperiosteal implants is their ability to be used in a mandible with an atrophic alveolar ridge. Unfortunately, this feature of the hardware is also its weakness in that reconstructive procedures after their removal are difficult. The failing subperiosteal implant in our patient was subsequently removed, and primary closure of the intraoral wound and extraoral fistula as well as resolution of the patients symptoms was obtained with no lasting complications.