RECESSIVE X-LINKED ICHTHYOSIS

Overview and Facts

Recessive X-linked ichthyosis, often known as X-linked ichthyosis, is a hereditary condition characterized by extremely dry skin. They have skin with mild scaling, one which covers a broad area, light, fine, rhomboid, adheres, and is dark brown or light gray in color. In addition, the neck back, top trunk and extender limb areas are often impacted. The disease commonly manifests at birth or within the first six months of life.

Eye corneal opacities, undescended testicles, and neurological abnormalities are all connected with recessive X-linked ichthyosis.

Types and Symptoms

SYMPTOMS

At infancy, males with X-linked ichthyosis look normal. During the first year of life, the following skin signs usually occur:

  • Scales that cling to the skin and are brownish in color.
  • Corneal opacities 
  • Cryptorchidism

Women who are transmitters of X-linked ichthyosis and have children with the disease may suffer from the following symptoms:

  • Problems in giving birth
  • Defective enzymes
  • Low levels of estriol in the blood

Summertime and humid settings may significantly ease the symptoms of the disease.

Diagnosis & Medications

DIAGNOSIS

The diagnosis of recessive X-linked ichthyosis is primarily based on the patient’s medical clinical history findings. Following delivery, placenta, skin fibroblasts and keratinocytes biochemistry research included the following:

  • STS activity assay
  • Serum protein electrophoresis

The genetic analysis includes:

  • Fluorescent in situ hybridisation 
  • Polymerase chain reaction 
  • Southern blot

Prenatal diagnostic testing includes: For X-linked ichthyosis

  • The presence in the mother’s urine of non-hydrolysed sulphates
  • Tests of amniotic or chorionic villi  fluid if the lineage of STS gene deficiency is known provide information on carrier status for hereditary Tay-Sachs disease.
  • The decreased estrogen levels in maternal urine

TREATMENT

For recessive X-linked ichthyosis, there’s no definitive treatment, and existing data is limited. Alternative treatments, on the other hand, aim to reduce skin scaling and enhance its skin appearance. Among the possibilities are:

  • Emollients
  • Oral liarozole 
  • Calcipotriol ointment
  • Topical tazarotene 
  • Pumice stone or exfoliating sponge
  • Topical isotretinoin
  • (optically) destroying and/or treating various components using a topical keratolytic solution that contains glycolic acid, lactic acid, urea, and salicylic acid

Patients and relatives may also be advised to learn about the recession and patterns of recessive x-related ichthyosis. However, research into whether people can also be treated using gene transfer is currently ongoing.

Consult your physician about the most effective treatment choices for dominant X-linked ichthyosis.

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