Nevoid basal cell carcinoma syndrome in a black child

Hall, Jenifer; Johnston, Kylie; McPhillips, John P.; Barnes, Scott D.; Elston, Dirk M.

doi:10.1016/s0190-9622(98)70585-7

Cited by 14 publications

(18 citation statements)

References 6 publications

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“…[10][11][12][13] One recent report found a patient presenting with exotropia similar to that in our patient, but the underlying cause was found to be an odontogenic keratocyst (a classic finding in Gorlin syndrome) of the alveolar ridge causing outward deviation of the globe. 14 This case provides an example of a rare anatomic anomaly that has significant clinical pertinence. Awareness of such an entity can improve the search pattern of radiologists evaluating patients with atypical strabismus because this anomaly is amenable to surgical resection.…”

Section: 2mentioning

confidence: 97%

Anomalous Extraocular Muscles with Strabismus

Dobbs¹,

Mawn²,

Donahue³

2010

AJNR Am J Neuroradiol

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SUMMARY: An 8-month-old boy with Gorlin syndrome presented with a large right-face turn and constant exotropia of the left eye. Eight-millimeter recession of the left lateral rectus muscle was performed at 23 months of age without complete postoperative improvement. Orbital imaging revealed bilateral anomalous extraocular muscles inferolateral to the optic nerves. Surgical resection of the tissue confirmed the accessory musculature with postoperative correction of the strabismus. To our knowledge, this appears to be the first reported case in the radiologic literature.

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Section: 2mentioning

confidence: 97%

Anomalous Extraocular Muscles with Strabismus

Dobbs¹,

Mawn²,

Donahue³

2010

AJNR Am J Neuroradiol

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“…The highest incidence rate is observed in people between puberty and age 35, although it was also observed in children ages 3 to 4 years. It is diagnosed in 90% of Caucasians age 40 or older [4,17] and in 40% of the Negroid population [10,18,19]. The number of BCC lesions varies from several to thousands [10], their diameter ranges from 1 mm to 10 mm, and they may have various forms from skin-coloured nodules or papules to ulcerating plaques.…”

Section: Symptoms and Complicationsmentioning

confidence: 99%

Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Kiwilsza

Sporniak‐Tutak

2012

Med Sci Monit

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SummaryGorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends to be a multisystemic disorder, familiarity of various medical specialists with its manifestations may reduce the time necessary for providing a diagnosis. It will also enable them to apply adequate methods of treatment and secondary prevention. In this study, we present symptoms of the disease, its diagnostic methods and currently used treatments.We searched 2 scientific databases: Medline (EBSCO) and Science Direct, for the years 1996 to 2011. In our search of abstracts, key words included nevoid basal cell carcinoma syndrome and Gorlin-Goltz syndrome.We examined 287 studies from Medline and 80 from Science Direct, all published in English. Finally, we decided to use 60 papers, including clinical cases and literature reviews.Patients with Gorlin-Goltz syndrome need particular multidisciplinary medical care. Knowledge of multiple and difficult to diagnose symptoms of the syndrome among professionals of various medical specialties is crucial. The consequences of the disease pose a threat to the health and life of patients. Therefore, an early diagnosis creates an opportunity for effective prevention and treatment of the disorder. Prevention is better than cure.

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“…Gorlin and Goltz [5] described this rare syndrome in 1960, with an earlier case report by Jarisch and White in 1894 [6] . It is an autosomal dominant condition, with complete penetrance and variable expressivity that has been mapped to chromosome 9.…”

Section: Discussionmentioning

confidence: 92%

Skeletal Imaging of Gorlin’s Syndrome

Smith

Byun²,

Elgazzar³

2006

Med Princ Pract

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Objective: To report a case of a patient with many of the common manifestations of Gorlin’s syndrome, a rare inherited condition. Clinical Presentation and Intervention: A 26-year-old female with longstanding left hip pain was referred for bone scintigraphy to find the cause of pain. The findings on bone scintigraphy as well as prior radiographic studies illustrated many of the defining features of Gorlin’s syndrome, i.e. jaw keratocysts, falcine calcifications, short and deformed ribs, Sprengel deformity and a sclerotic bone lesion. The past medical history also revealed dermatologic, cardiac and gynecological findings related to the syndrome. Conclusion: Our case highlights the multisystemic involvement of Gorlin’s syndrome, based particularly on the skeletal findings. Practicing physicians, including imaging specialists, should be familiar with these findings to reach the diagnosis.

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Nevoid basal cell carcinoma syndrome in a black child

Cited by 14 publications

References 6 publications

Anomalous Extraocular Muscles with Strabismus

Anomalous Extraocular Muscles with Strabismus

Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Skeletal Imaging of Gorlin’s Syndrome

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