[Clinical characteristics and genetic identity of the basal cell nevus syndrome (Gorlin-Goltz syndrome)]. 1975

H S Breytenbach, and G S Gericke, and C J Muller, and C J Nortjé, and B C Shanley, and E Swart, and C W Van Wyk

The clinical, genetic, radiological, dental and dermatological aspects of 3 patients with the autosomal dominant basal cell naevus syndrome are reported. An analysis of the phenotypic features of 72 cases described in the literature is presented and compared with a previous analysis. Ash leaf hypopigmentation similar to that found in tuberous sclerosis represents a unique finding in this syndrome. Other similarities to the phacomatoses are discussed. We were able to support a previous report that patients with the basal cell naevus syndrome have a normal end-organ response to parathormone stimulation, and that it is most probably not related to pseudohypoparathyroidism, as earlier reports suggested.

UI MeSH Term Description Entries
D007571 Jaw Diseases Diseases involving the JAW. Disease, Jaw,Diseases, Jaw,Jaw Disease
D008297 Male Males
D010281 Parathyroid Hormone A polypeptide hormone (84 amino acid residues) secreted by the PARATHYROID GLANDS which performs the essential role of maintaining intracellular CALCIUM levels in the body. Parathyroid hormone increases intracellular calcium by promoting the release of CALCIUM from BONE, increases the intestinal absorption of calcium, increases the renal tubular reabsorption of calcium, and increases the renal excretion of phosphates. Natpara,PTH (1-84),PTH(1-34),Parathormone,Parathyrin,Parathyroid Hormone (1-34),Parathyroid Hormone (1-84),Parathyroid Hormone Peptide (1-34),Hormone, Parathyroid
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010710 Phosphates Inorganic salts of phosphoric acid. Inorganic Phosphate,Phosphates, Inorganic,Inorganic Phosphates,Orthophosphate,Phosphate,Phosphate, Inorganic
D010859 Pigmentation Disorders Diseases affecting PIGMENTATION, including SKIN PIGMENTATION. Incontinentia Pigmenti Achromians,Ito Syndrome,Schamberg's Disease,Schamberg Disease,Disease, Schamberg,Disease, Schamberg's,Disorder, Pigmentation,Disorders, Pigmentation,Pigmentation Disorder,Schambergs Disease,Syndrome, Ito
D011547 Pseudohypoparathyroidism A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN. Albright Hereditary Osteodystrophy,PHPIa,Albright Hereditary Osteodystrophy with Multiple Hormone Resistance,PHD Ib,PHD1b,PHP Ia,Pseudohypoparathyroidism Type 1B,Pseudohypoparathyroidism, Type Ia,Pseudohypoparathyroidism, Type Ib,Hereditary Osteodystrophy, Albright,Osteodystrophy, Albright Hereditary,Pseudohypoparathyroidism Type 1Bs,Pseudohypoparathyroidisms,Pseudohypoparathyroidisms, Type Ia,Pseudohypoparathyroidisms, Type Ib,Type Ia Pseudohypoparathyroidism,Type Ia Pseudohypoparathyroidisms,Type Ib Pseudohypoparathyroidism,Type Ib Pseudohypoparathyroidisms
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D001845 Bone Cysts Benign unilocular lytic areas in the proximal end of a long bone with well defined and narrow endosteal margins. The cysts contain fluid and the cyst walls may contain some giant cells. Bone cysts usually occur in males between the ages 3-15 years. Ganglia, Intraosseous,Intraosseous Ganglion,Solitary Cysts,Subchondral Cysts,Ganglia, Intra-Osseous,Ganglion, Intra-Osseous,Intra-Osseous Ganglia,Intra-Osseous Ganglion,Bone Cyst,Cyst, Bone,Cyst, Solitary,Cyst, Subchondral,Cysts, Bone,Cysts, Solitary,Cysts, Subchondral,Ganglia, Intra Osseous,Ganglias, Intra-Osseous,Ganglias, Intraosseous,Ganglion, Intra Osseous,Ganglion, Intraosseous,Ganglions, Intra-Osseous,Intra Osseous Ganglia,Intra Osseous Ganglion,Intra-Osseous Ganglias,Intra-Osseous Ganglions,Intraosseous Ganglia,Intraosseous Ganglias,Intraosseous Ganglions,Solitary Cyst,Subchondral Cyst
D002280 Carcinoma, Basal Cell A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471) Carcinoma, Basal Cell, Pigmented,Epithelioma, Basal Cell,Rodent Ulcer,Ulcer, Rodent,Basal Cell Carcinoma,Basal Cell Carcinomas,Basal Cell Epithelioma,Basal Cell Epitheliomas,Carcinomas, Basal Cell,Epitheliomas, Basal Cell,Rodent Ulcers,Ulcers, Rodent

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