Mulvihill-Smith progeria-like syndrome: A further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities

Abstract

We report the seventh case of Mulvihill-Smith progeria-like syndrome in a 5-year-old boy with a thin, pinched face, failure to thrive, and cutaneous pigmented nevi. The patient's motor and intellectual development were normal. His immune function tests demonstrate evidence of lymphopenia with no selective loss of a major subpopulation, low immunoglobulin (Ig)G2 and IgG4 subclasses, and an absent in vitro proliferative response to pokeweed mitogen. Chromosomal mitomycin and radiation sensitivity were normal. The skin fibroblast growth in culture was slow, and the fibroblasts appeared morphologically different from normal controls in their size and large number of inclusions. In addition, primary cilia, which normally issue from the centrosome, were absent-a new finding in fibroblasts in this disorder. It remains to be seen if the relative absence of centrosomal cilia in cultured fibroblasts in early passages is a consistent finding in this progeria syndrome.

Turner's syndrome in dermatology

“…Pterygium coli (webbing of the neck), redundant neck folds (sometimes described as cutis laxa-like), low hairline over the nape of the neck, and acral congenital lymphedema are all sequelae of faltered lymphatic pathogenesis. These manifestations elicit a differential diagnosis of congenital lymphedema including entities such as Noonan's syndrome, lymphedema-distichiasis syndrome, 77 MulvihillSmith syndrome, 78 congenital lymphedema with hypogammaglobulinemia or selective IgA deficiency, 79,80 familial primary lymphedema, and Milroy's disease. 81 Any infant presenting with congenital lymphedema of the extremities or neck should have their karyotype analyzed.…”

Ocular complications in Mulvihill–Smith syndrome

“…2,3 Reported ophthalmological findings include astigmatism, myopia, endothelial dystrophy, keratoconus, 4 cataract, 5 amblyopia, and allergic conjunctivitis. We emphasize the unreported features in this ninth case in the literature.…”

Retinal features in Mulvihill-Smith syndrome

“…The clinical features in this subject aged 5 years have been reported in the past. 2 In childhood he developed hypergonadotrophic hypogonadism, multiple hepatic adenomas, pancreatic atrophy and diabetes mellitus. He had a normal motor and intellectual growth till puberty after which he developed bilateral progressive sensorineural deafness, sleep disorder, visual, and cognitive decline.…”

“…[1][2][3] The morphological features of MSS include premature ageing in childhood, short stature, craniofacial abnormalities such as microcephaly, micrognathia, small pointed chin, oligodontia, loss of subcutaneous fat, pigmented naevi on face, neck, hands, and trunk. They can also develop sensorineural hearing loss, high pitched voice, mental retardation, and sleep disturbances.…”