Familial Micronodular Adrenocortical Disease, Cushing Syndrome, and Mutations of the Gene Encoding Phosphodiesterase 11A4 ( PDE11A) [PDF]
, 2014 We present the pathologic findings in the adrenal glands of 4 patients, aged 10 to 38 years, with Cushing syndrome and germline inactivating mutations of the gene PDE11A4 that encodes phosphodiesterase11A4. The gene is expressed in the adrenal cortex and
Bertherat, J. +3 more
core +1 more source
Oral manifestations of McCune-Albright syndrome
Indian Journal of Endocrinology and Metabolism, 2013 McCune- Albright Syndrome (MAS) is a rare fibrosseous lesion, characterized by a classic triad of polyostotic fibrous dysplasia (PFD), cafι -au-lait macules (CALM) and underlying endocrinopathies.
Konidena Aravinda +2 more
doaj +1 more source
The Molecular Pathogenesis of Pituitary Adenomas: An Update [PDF]
, 2013 Pituitary tumors represent the most common intracranial neoplasms accompanying serious morbidity through mass effects and inappropriate secretion of pituitary hormones. Understanding the etiology of pituitary tumorigenesis will facilitate the development
Jiang, Xiaobing, Zhang, Xun
core +2 more sources
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Auxological and Endocrinological Features in Children With McCune Albright Syndrome: A Review
Frontiers in Endocrinology, 2020 McCune–Albright syndrome is a rare and challenging congenital sporadic disease involving the skin and skeletal and endocrine systems with a prevalence ranges from one in 100,000 to 1,000,000.
Maria Tufano +3 more
doaj +1 more source
Sindrom McCune Albright Dengan Manifestasi Fraktur Berulang [PDF]
, 2021 Abstrak Sindrom McCune-Albright (SMA) merupakan kelainan genetik kompleks yang ditandai dengan trias displasia fibrosa poliostotik, café-au-lait, dan hiperfungsi endokrin. Sindrom ini termasuk penyakit langka dengan prevalens sebesar 1 per 100.000 hingga
Nadya, Ruth, Soesanti, Frida
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A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder
American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone +11 more
wiley +1 more source
Radiographic classification of coronal plane femoral deformities in polyostotic fibrous dysplasia [PDF]
, 2014 Fibrous dysplasia of bone is a skeletal dysplasia with a propensity to affect the femur in its polyostotic form, leading to deformity, fracture, and pain.
Boyce, A +5 more
core +1 more source
High Grade Dysplastic Rectal Adenoma in a Young Patient With Café‐Au‐Lait Spots: A Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT Colorectal cancer screening guidelines typically focus on familial history and age‐related risk factors, yet Café‐au‐lait macules could serve as early indicators for tailored surveillance protocols. This case underscores the importance of considering extracolonic manifestations in young patients presenting with colorectal symptoms.
Ali Hamdan +4 more
wiley +1 more source
Maxillary fibrous dysplasia associated with McCune-Albright syndrome. A case study
Open Medicine, 2016 McCune Albright syndrome (MCA) is a rare complication of genetic origin. The authors present a case study of a patient with MCA diagnosed with multifocal fibrous dysplasia in his limb and craniofacial bones.
Wójcik Sylwia +4 more
doaj +1 more source