The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multi...

BACKGROUND Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. METHOD A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described. RESULTS In 14 pa...

Gorlin-Goltz syndrome is a rare autosomal dominant disorder that involves multiple organ systems, including the skin, skeleton and jaws. We report a case of young female with multiple odontogenic keratocysts, high arched palate, euryopia, palmer pits, solitary, pigmented nevus , areas of hyper-pigmentation in the upper eyelid of left eye, dorsal surface of hands, calcified diaphragma sellae, ri...

Gorlin-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 ...

Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The...

Goltz syndrome or focal dermal hypoplasia is a rare syndrome with mesoectodermal hypoplasia. This syndrome is an X-linked dominant disorder with involvement of the cutaneous, ocular, dental and skeletal systems. The most significant feature of this disease is connective tissue dysplasia. Here, we report a 30-year old woman who presented with congenital unilateral linear atrophic areas on her tr...

Introduction. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. Case Report. The present paper highlights the importance of diagnostic criteria and histopathology in early and prompt diagnosis which will lead to proper treatment and genetic counseling of the patient. Discussion. Gorlin-Goltz syndrome is about multisyste...

Although odontogenic keratocysts are common in clinical practice, the simultaneous occurrence of multiple cysts in both the maxilla and mandible of a patient is rare. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaws, multiple basal cell nevi carc...

Gorlin and Goltz syndrome are a very complex syndrome and a multisystemic process that is characterized by the presence of multiple pigmented basocellular carcinomas, keratocysts in the jaws, palmar and/or plantar pits and calcification of the falx cerebri. Along with these major features a great number minor features have also been described which involves numerous skeletical, dermatology rela...