Cerebral gigantism associated with jaw cyst basal cell naevoid syndrome in two families

Cramer, H.; Niederdellmann, H

doi:10.1007/bf00343432

Cited by 12 publications

(5 citation statements)

References 17 publications

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“…In contrast excess Hh signaling activity due to overexpression of Shh results in pituitary hyperplasia in mice 9 . Moreover, inactivating PTCH mutations may affect the hormone homeostasis of the pituitary since patients with heterozygous PTCH germline mutation (Gorlin-Goltz-Syndrome) as well as heterozygous Ptch knockout mice occasionally develop acromegaly-like symptoms 10 11 12 13 14 15 16 17 18 19 .…”

mentioning

confidence: 99%

Hedgehog signaling activation induces stem cell proliferation and hormone release in the adult pituitary gland

Pyczek

Buslei

Schult

et al. 2016

Sci Rep

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Hedgehog (HH) signaling is known to be essential during the embryonal development of the pituitary gland but the knowledge about its role in the adult pituitary and in associated tumors is sparse. In this report we investigated the effect of excess Hh signaling activation in murine pituitary explants and analyzed the HH signaling status of human adenopituitary lobes and a large cohort of pituitary adenomas. Our data show that excess Hh signaling led to increased proliferation of Sox2+ and Sox9+ adult pituitary stem cells and to elevated expression levels of adrenocorticotropic hormone (Acth), growth hormone (Gh) and prolactin (Prl) in the adult gland. Inhibition of the pathway by cyclopamine reversed these effects indicating that active Hh signaling positively regulates proliferative processes of adult pituitary stem cells and hormone production in the anterior pituitary. Since hormone producing cells of the adenohypophysis as well as ACTH-, GH- and PRL-immunopositive adenomas express SHH and its target GLI1, we furthermore propose that excess HH signaling is involved in the development/maintenance of hormone-producing pituitary adenomas. These findings advance the understanding of physiological hormone regulation and may open new treatment options for pituitary tumors.

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mentioning

confidence: 99%

Hedgehog signaling activation induces stem cell proliferation and hormone release in the adult pituitary gland

Pyczek

Buslei

Schult

et al. 2016

Sci Rep

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“…The characteristic pattern seems to be delay of expressive language and motor development in infancy followed by attainment of normal intelligence as occurred in the proposita and her sister and in 20 other patients [Hook and Reynolds, 1967;Ott and Robinson, 1969;Mace and G o t h , 1970;Zonana et al, 1977;Livingood and Borengasser, 1981;Hulse, 1981;Cramer and Niederdellmann, 1983;Bloom et al, 19831. Language and cognitive development were unremarkable in the proposita's mother.…”

Section: Discussionmentioning

confidence: 97%

Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics

et al. 1985

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Most reported cases of Sotos syndrome are sporadic, but autosomal dominant and recessive inheritance patterns have been suggested. Ascertainment of a two-generation family through a 7-year-old proposita with a learning disability allowed the relatively unbiased study of two affected relatives. Developmental delay was not pronounced in the patient's mother or sister; craniofacial characteristics at variance with the characteristic description included acrocephaly and maxillary prominence. Steepness of the anterior cranial base angle and protrusion of the middle and lower face, shown in all three patients by cephalometric radiographs, deserve further evaluation as diagnostic criteria.

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“…Another son was 198 cm tall at the age of 17 years. Macrocephaly, mild hydrocephalus, intracranial calcification, and electroencephalography abnormalities were described …”

Section: Basal Cell Nevus Syndrome: Clinical Reviewmentioning

confidence: 99%

Basal cell nevus syndrome: clinical and molecular review and case report

et al. 2015

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Basal cell nevus syndrome (BCNS), also referred to as nevoid basal cell carcinoma syndrome or Gorlin-Goltz syndrome, was first described by Gorlin and Goltz in 1960 as an autosomal dominant disorder characterized by the early appearance of multiple basal cell carcinomas (BCCs), keratocysts of the jaw, ectopic calcifications, palmar and plantar pits, and anomalies of the ocular, skeletal, and reproductive systems. The genesis of this cancer's etiology in relation to BCNS was unclear until a few years ago when molecular analysis studies suggested a relationship between BCC and the loss-of-function mutations of the patched gene (PTCH) found on chromosome arm 9q. PTCH inhibits signaling by the membrane protein Smoothened (Smo), and this inhibition is relieved by binding sonic hedgehog (SHH) to PTCH. We describe a patient with multiple BCCs associated with x-ray anomalies of BCNS and review the basis of the SHH signaling pathway and clinical aspects of BCNS.

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Cerebral gigantism associated with jaw cyst basal cell naevoid syndrome in two families

Cited by 12 publications

References 17 publications

Hedgehog signaling activation induces stem cell proliferation and hormone release in the adult pituitary gland

Hedgehog signaling activation induces stem cell proliferation and hormone release in the adult pituitary gland

Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics

Basal cell nevus syndrome: clinical and molecular review and case report

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