Epithelioma Adenoides Cysticum: Basal Cell Nevi, Agenesis of the Corpus Callosum and Dental Cysts

Binkley, George W.; Johnson, Herbert H.

doi:10.1001/archderm.1951.01570010076006

Cited by 130 publications

(37 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The incidence of polydactyly (3%) was similar to that obtained by Shanley et al [1994]. Absent or abnormal corpus callosum was seen as an autopsy finding in the first reported case of NBCC [Binkley and Johnson, 1951]. Other associated anomalies such as asymmetric ventricles (not associated with tumors or surgery) and cerebral atrophy have not previously been reported.…”

Section: Discussionsupporting

confidence: 75%

Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

Goldstein²,

et al. 1997

View full text Add to dashboard Cite

Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to >1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include ''coarse face'' in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. Important radiological signs included calcification of the falx cerebri in 65%, of the tentorium cerebelli in 20%, bridged sella in 68%, bifid ribs in 26%, hemivertebrae in 15%, fusion of the vertebral bodies in 10%, and flame shaped lucencies of the phalanges, metacarpal, and carpal bones of the hands in 30%. Several traits previously considered components of the syndrome (including short fourth metacarpal, scoliosis, cervical ribs and spina bifida occulta) were not found to be significantly increased in the affected individuals. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management. Am.

show abstract

Section: Discussionsupporting

confidence: 75%

Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

Goldstein²,

et al. 1997

View full text Add to dashboard Cite

show abstract

“…Other tum ors which have been reported in significant association with this syndrome include medulloblastoma [5] and ovarian fibromas [1,2,3,6]. Although solid benign ovarian tum ors willi Malignant Melanoma of (lie Iris 105 are in general rather uncommon [7,8,9], Clendenning el al.…”

Section: Commentsmentioning

confidence: 99%

“…

In 1951 Binkley and Johnson [1] reported the com bination of basal cell nevi with jaw cysts, a bifid sixth rib, ovarian fibroma and partial agenesis of the corpus callosum. Later reports [2,3] summarized further work pointing to the existence of a basal cell nevus syndrome, in which multiple basal cell carcinomas are associated with varyingly combined anomalies of the osseous, nervous, ophthalm ic and repro ductive systems, as well as soft tissues.

…”

mentioning

confidence: 99%

Basal Cell Nevus Syndrome Associated with Malignant Melanoma of the Iris

Kedem¹,

Evein-Paz²,

Freund³

1970

Dermatology

View full text Add to dashboard Cite

“…

This heredo-familial pathological condition which is mainly charac terized by m ultiple basal-cell naevi and basal-cell epitheliom ata, multiple jaw cysts and skeletal anomalies is referred to in the litera ture by a number of rather unsatisfactory names [1,2], Its classifi cation in the group of the phacomatoses, proposed by Hermans et al [3,4] on the basis of certain criteria suggested by van der Iloeve [6] has the advantage th a t it calls attention not only to the skin lesions but also to the more or less regularly occurring associated anomalies. However, ocular lesions, i. c. the small retinal tum ours th at are typical particularly of von Recklingshausen's and Pringle-Bourneville's diseases, have not yet been encountered in this affection.

We have had the opportunity of carrying out a detailed examination of 6 patients with this disease, five of whom belonged to two families not related to each other, while one was an isolated case.

…”

mentioning

confidence: 99%