Goltz Syndrome, also known as Focal Dermal Hypoplasia (FDH), is a rare genetic disorder characterized by abnormalities affecting multiple body systems. It is named after the German dermatologist Robert Goltz, who first described the condition in 1962.
The syndrome is predominantly X-linked, which means it primarily affects females. However, cases of males with Goltz Syndrome have also been reported, often with severe manifestations. The genetic mutation associated with this condition occurs on a gene called PORCN, which plays a crucial role in embryonic development and tissue formation.
Individuals with Goltz Syndrome exhibit a wide range of characteristic signs and symptoms, including patchy hypopigmentation and thinning of the skin, resembling a "pathologic marble cake" appearance. These skin abnormalities may be accompanied by small, soft, saclike growths or nodules. Additionally, affected individuals may present with skeletal malformations, such as missing or malformed fingers or toes, as well as skeletal asymmetry.
Furthermore, Goltz Syndrome can affect the eyes, teeth, and various internal organs, leading to vision problems, dental abnormalities, hearing loss, and gastrointestinal issues. Intellectual disability and developmental delays are also common. The severity and extent of symptoms can vary widely between individuals, even within affected families.
The diagnosis of Goltz Syndrome usually involves a thorough clinical evaluation, detection of characteristic physical findings, and genetic testing to confirm the presence of PORCN gene mutations. Treatment for this syndrome primarily focuses on managing associated symptoms and complications, including dermatological care, orthopedic interventions, or surgeries to correct skeletal malformations.
Overall, Goltz Syndrome is a complex condition characterized by a spectrum of physical, developmental, and sometimes systemic abnormalities, requiring specialized medical support
