Question 1

What is autosomal recessive congenital ichthyosis 11?

Accepted Answer

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.

Question 2

What are the symptoms of autosomal recessive congenital ichthyosis 11?

Accepted Answer

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.

Question 3

What causes autosomal recessive congenital ichthyosis 11?

Accepted Answer

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. Associated genes include ST14.

Question 4

How is autosomal recessive congenital ichthyosis 11 inherited?

Accepted Answer

autosomal recessive congenital ichthyosis 1

MONDO:0009441

RareModerate

ichthyosis, congenital, autosomal recessive 13

MONDO:0033092

RareModerate

ichthyosis, congenital, autosomal recessive 14

MONDO:0033091

RareModerate

ichthyosis, congenital, autosomal recessive 12

MONDO:0015018

RareModerate

bathing suit ichthyosis

MONDO:0015085

RareModerate

acral self-healing collodion baby

MONDO:0017268

RareModerate

Question 5

How rare is autosomal recessive congenital ichthyosis 11?

Accepted Answer

autosomal recessive congenital ichthyosis 11 is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is autosomal recessive congenital ichthyosis 11 diagnosed?

Accepted Answer

Definitive diagnosis is established through molecular genetic testing that identifies pathogenic variants in the ST14 gene. A thorough clinical evaluation, including an assessment of characteristic skin, hair, ocular, and dental features, supports the diagnostic process. As many of these symptoms can be seen in other conditions, genetic testing is essential to confirm the diagnosis and distinguish this condition from similar disorders.

Question 7

Are there treatments for autosomal recessive congenital ichthyosis 11?

Accepted Answer

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.

Question 8

What complications can arise from autosomal recessive congenital ichthyosis 11?

Accepted Answer

Individuals with autosomal recessive congenital ichthyosis 11 may experience various complications related to their skin, hair, and eyes. Skin issues like pruritus can lead to discomfort and potential infections if not managed properly. Ocular problems, such as corneal opacity and photophobia, may also affect vision and require regular monitoring by eye specialists.

Question 9

How does autosomal recessive congenital ichthyosis 11 affect daily life?

Accepted Answer

Living with autosomal recessive congenital ichthyosis 11 can present daily challenges, especially concerning skin care and managing hair abnormalities. Individuals may need to follow specific routines to keep their skin moisturized and healthy. Additionally, they might require regular visits to specialists for eye care and dental issues, which can impact their daily activities.

Question 10

What is the prognosis for someone with autosomal recessive congenital ichthyosis 11?

Accepted Answer

The prognosis for individuals with autosomal recessive congenital ichthyosis 11 varies widely, as symptoms can differ significantly from person to person. Many individuals can maintain a stable clinical course with proper supportive care, which can enhance their quality of life. Ongoing research and improved standards of care continue to provide better outcomes for those affected.

Question 11

What specialists should families consult for autosomal recessive congenital ichthyosis 11?

Accepted Answer

Families dealing with autosomal recessive congenital ichthyosis 11 should consider consulting a multidisciplinary team of specialists. This may include dermatologists for skin care, ophthalmologists for eye health, and dentists for dental anomalies. Genetic counselors can also provide valuable information about the inherited nature of the condition and help with family planning considerations.

Organ System	Phenotype Count	Example Features
Skin	6	Abnormal nail morphology, Congenital ichthyosiform erythroderma, Pruritus
Eyes	1	Cloudy or opaque cornea (corneal opacity)
Pregnancy and birth	1	Congenital ichthyosiform erythroderma

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autosomal recessive congenital ichthyosis 11

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

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Questions for Your Care Team

FAQ

Frequently Asked Questions

autosomal recessive congenital ichthyosis 11

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is autosomal recessive congenital ichthyosis 11?

What are the symptoms of autosomal recessive congenital ichthyosis 11?

What causes autosomal recessive congenital ichthyosis 11?

How is autosomal recessive congenital ichthyosis 11 inherited?

How rare is autosomal recessive congenital ichthyosis 11?

How is autosomal recessive congenital ichthyosis 11 diagnosed?

Are there treatments for autosomal recessive congenital ichthyosis 11?

What complications can arise from autosomal recessive congenital ichthyosis 11?

How does autosomal recessive congenital ichthyosis 11 affect daily life?

What is the prognosis for someone with autosomal recessive congenital ichthyosis 11?

What specialists should families consult for autosomal recessive congenital ichthyosis 11?