cold-induced sweating syndrome 2

Cold-induced sweating syndrome 2 is a condition characterized by abnormal cold-induced sweating along with a spectrum of musculoskeletal and neuromuscular features. It is caused by mutations in the CLCF1 gene, which disrupt normal protein function and impact the development and function of multiple organ systems. The condition follows an autosomal recessive inheritance pattern, meaning that an affected individual inherits two mutated copies of CLCF1. Precise prevalence estimates are not well established, and current understanding continues to evolve as more cases are identified.

Individuals with cold-induced sweating syndrome 2 present with a combination of distinctive physical features. Characteristic findings include sensorimotor neuropathy, cold-induced sweating, and feeding difficulties along with several musculoskeletal abnormalities such as lumbar hyperlordosis, cubitus valgus, thoracolumbar scoliosis, limited elbow extension, clinodactyly, a high palate, protruding ears, and 2-3 toe syndactyly. These features typically manifest early in life and are consistently reported in affected individuals. Not all individuals experience every feature, and severity varies considerably.

Cold-induced sweating syndrome 2 is caused by mutations in the CLCF1 gene. The CLCF1 gene provides instructions for making a protein that is important for normal cellular signaling and development. Disruption of this protein’s function contributes to the multisystem features of the condition. The disorder is inherited in an autosomal recessive manner, which means that an affected individual receives one mutated copy of the gene from each parent. Families may find genetic counseling helpful in understanding risks and implications for future family planning.

Currently, management focuses on supportive care and symptom management, as there are no treatments specifically approved for cold-induced sweating syndrome 2. Treatment is tailored to each individual and typically involves a multidisciplinary team to address the various aspects of the condition. Long-term management includes regular surveillance to detect potential complications early. Patients should discuss treatment options with their healthcare team, and genetic counseling is recommended to better understand the implications of the condition.

The outlook for individuals with cold-induced sweating syndrome 2 varies, with outcomes depending on the severity of symptoms, age at diagnosis, and access to specialized care. While the condition is lifelong, many individuals are able to manage their symptoms with supportive therapies, and quality of life can be maintained with appropriate multidisciplinary care. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition to receive ongoing support and updated information about management strategies.