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Principles of Clinical Diagnosis
Published in Susan Bayliss Mallory, Alanna Bree, Peggy Chern, Illustrated Manual of Pediatric Dermatology, 2005
Susan Bayliss Mallory, Alanna Bree, Peggy Chern
Differential diagnosisGoltz syndrome (focal dermal hypoplasia)Encephalocraniocutaneous lipomatosis
Genetics of NF1 and NF2
Published in J. K. Cowell, Molecular Genetics of Cancer, 2003
Margaret R. Wallace, Mia MacCollin
The involvement of the NF1 gene in other disorders showing phenotypic overlap is also under study, including investigations in the ‘NF-Noonan syndrome’ (Stern et al., 1992), Watson syndrome, and familial café-au-lait spots. One Watson syndrome patient has an NF1 intragenic gene deletion (Upadhyaya et al., 1992), and another has a 42-bp duplication in exon 28 (Tassabehji et al., 1993), supporting the notion that this disorder is allelic to NF1. While some families with café-au-lait spots (consistently showing no other NF1 features) do not show linkage to the NF1 gene, one family has shown linkage (Abeliovich et al., 1995) although the causative NF1 mutation (or mutation in another close gene) remains a mystery. Also, there are two reports of non-NF1 patients with NF1 mutations: one had LEOPARD syndrome with multiple lentigines, and the other was a child with encephalocraniocutaneous lipomatosis (Legius et al., 1995; Wu et al., 1996). It is unclear whether these might also represent coincidental findings or extremes of the NF1 phenotype. There was also a report of a mutation in a 21-year-old with optic glioma who did not meet diagnostic criteria (Buske et al., 1999). It is possible that this patient is mosaic and thus does not express the full phenotype (despite evidence of the mutation in multiple tissues), or it may be an example of a legitimate NF1 phenotype, muddying the issues of diagnostic criteria and penetrance.
Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome
Published in Ophthalmic Genetics, 2022
Meghana Kalavar, Jose J. Echegaray, Noy Ashkenazy, Craig McKeown, Audina M. Berrocal
Interestingly, we expand upon the ocular manifestations of this disease to include choroidal calcifications, which to our knowledge have not been previously reported in the literature in association with ACC/OES. Novel extraocular findings in our cases also include angiokeratoma, lower extremity hypertrophy, and conductive hearing loss. An accurate diagnosis of OES is critical, as the condition has been associated with encephalocraniocutaneous lipomatosis (12), warranting neuroimaging to rule out the presence of brain and spinal involvement. Giant cell granulomas of the mandible and non-ossified bones may merit referral to a maxillofacial or orthopedic surgeon (9). We believe that choroidal calcifications should be added to the spectrum of findings in ACC/OES and may assist in early diagnosis of this complex disease entity.
Congenital Spinal Lipomatous Malformations. Part 1. Spinal Lipomas, Lipomyeloceles, and Lipomyelomeningoceles
Published in Fetal and Pediatric Pathology, 2020
Rare cervicothoracic intramedullary lipomas, which are congenital malformations of mature adipose tissue rostral to the lumbar spinal cord, can pose both severe neurological deficits and surgical challenges. Symptoms usually appear in the third decade, although these lipomas have been seen in children [137]. An embryologic origin has yet to be well characterized but there is no heterogeneous histopathologic component [138–143]. These subpial spinal cord lipomas appear to be part of midline encephalocraniocutaneous lipomatosis that includes corpus callosum lipomas [144, 145]. Most but not all cases have spinal dysraphism [146, 147]. Subcutaneous cervicothoracic lipomas that may accompany cervicothoracic intramedullary lipomas are more likely to be developmental than neoplastic. One symptomatic cervicothoracic intramedullary lipoma was identified concomitantly with a symptomatic conus medullaris lipoma [148]. Older surgical-radiological classifications do not always distinguish between cervicothoracic intramedullary lipomas and congenital lumbosacrococcygeal lipomatous malformations [4, 21].