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Skin diseases

Autosomal recessive congenital ichthyosis (ARCI)

A group of inherited skin diseases present from birth. The skin is dry, scaly and thick. The baby is often born covered in a shiny, tight membrane.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Skin diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The outermost layer of the skin protects the body and keeps water inside. In this disease, one of the genes that builds this layer is changed. The skin becomes scaly, and the risk of water loss and infection increases. Temperature control can also be disturbed. The group includes lamellar ichthyosis, a type with red skin, and the most severe type, harlequin ichthyosis.

Which symptoms can occur?

Symptoms begin at birth and vary by type.

  • A shiny, tight membrane covering the skin at birth; collodion baby
  • Large, dark or fine scales over most of the body
  • Redness of the skin (in some types)
  • Eyelids and lips turned outward
  • Little sweating and poor tolerance of heat
  • Thickening of the palms and soles
  • Hair loss and nail problems (sometimes)
  • Water loss and infection in the newborn

How is it diagnosed?

The diagnosis is usually considered at birth from how the skin looks. A skin specialist examines the skin. A genetic test can show which gene is changed. This helps to understand the type of the disease.

Treatment and care

There is no definite cure for the disease, but treatments ease the symptoms. The basic care is moisturizing the skin every day. Creams that loosen scales can reduce thick scales. In severe cases, medicines that regulate skin renewal may be used. Skin infections are treated. In the newborn period the baby is monitored closely. Care is taken to avoid overheating in hot weather. New treatments are being researched. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

This group of diseases is passed on through recessive inheritance. Two changed genes are needed to have the disease; one comes from the mother and one from the father. Carrier parents usually have no symptoms. For a carrier couple, the chance of an affected child in each pregnancy is 1 in 4. In marriages between relatives, the chance of two carriers coming together may be higher. Genetic counselling guides the family.

Source: MedlinePlus Genetics: Lamellar ichthyosis · MedlinePlus Genetics: Harlequin ichthyosis · NHS: Ichthyosis · Orphanet: Autosomal recessive congenital ichthyosis (ORPHA:281097)

Key facts

How common is it?
Prevalence: 1-9 per 1 000 000 (Europe)
How is it inherited?
Autosomal recessive
When does it usually start?
Infancy, Newborn period

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Congenital ichthyosis

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 1 active interventional study for this disease. None is recruiting right now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Skin diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:281097 · ICD-11 EC20.02

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.