autosomal recessive congenital ichthyosis 11

Autosomal recessive congenital ichthyosis 11 is an ultra-rare condition that primarily affects the skin and hair, with additional ocular and dental involvement. Individuals typically present with distinct hair abnormalities such as consistently curly hair, sparse eyebrows and eyelashes, along with brittle hair and sparse body hair. Skin findings include congenital ichthyosiform erythroderma and pruritus, while some affected individuals also experience ichthyosis, corneal opacity, photophobia, and conical primary incisors. The condition is caused by pathogenic variants in the ST14 gene and is very rare, affecting fewer than 1 person per million.

The clinical presentation of autosomal recessive congenital ichthyosis 11 is defined by a set of consistent features. Nearly all affected individuals have characteristic hair findings that include curly hair, curly eyelashes, blepharitis, sparse eyebrows, sparse eyelashes, pili torti, brittle hair, and sparse body hair. Skin manifestations are prominent, with congenital ichthyosiform erythroderma and pruritus being always present, while ichthyosis is observed in most but not every case. Additional features, which occur in a subset of individuals, include ocular issues such as corneal opacity and photophobia and dental anomalies like a conical primary incisor. Not all individuals experience every feature, and the severity of symptoms can vary considerably.

This condition is caused by pathogenic variants in the ST14 gene, which plays an important role in skin barrier function and the development of hair follicles. It is inherited in an autosomal recessive pattern, meaning that an affected person has received one altered copy of the gene from each parent. The condition is more common when parents share a common ancestor, as both are more likely to carry the same rare genetic variant. Families are encouraged to seek genetic counseling to better understand recurrence risks and implications for family planning.

Currently, management focuses on supportive care and symptom management. Although there are no FDA-approved or foundational therapies specific to autosomal recessive congenital ichthyosis 11, treatment is tailored to the individual and typically involves a multidisciplinary team to address skin care, ocular health, and dental anomalies. Regular surveillance is recommended to monitor for potential complications, and genetic counseling is advised to provide guidance on the inherited nature of the condition and options for family planning.

Outcomes for individuals with autosomal recessive congenital ichthyosis 11 vary widely, with the severity and range of symptoms differing from person to person. Many affected individuals can experience a stable clinical course with appropriate supportive care, and quality of life may be improved through comprehensive management. 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 and to seek genetic counseling for further guidance.