Causes and risk factors
The disease is caused due to dominant X-linked genetic defect. That means, a female child [XX] inherits the disease, even with one copy of abnormal gene and males who inherit abnormal gene don’t survive causing still birth or is lethal after birth. The skin complaints are present at birth or develop a few weeks after birth.
Clinical presentation
There are four stages of clinical presentations of the disease with skin complaints – vesicular, verrucous, hyperpigmented, and atrophic. In vesicular stage, the child is born with streaky, blistering skin. There are rough bumps on the skin. They are seen on extremities and scalp. These are linear lesions. The verrucous stage involves wart-like lesions. Scab formation is seen. The skin is darkened. Hyperpigmentation involves darkening of skin, changes of skin colour from blue grey or slate brown. Darkening of skin in swirled pattern is observed. Atrophic or hypopigmented stage consists of scar-like lesions, which persist until adulthood. There are pale, patches on the skin which are deprived of hair. Along with skin features, other features include nail abnormalities like pitted, disfigured, ridged, thickened nails. Hair complaints such as lack of density of hair, baldness at crown; thin, wiry, lusterless hair; absent eyebrows or eyelashes are observed. Eye complaints involve scarring due to affection of ocular blood vessels or blindness. Tooth abnormalities like delayed teeth eruption, development of pegged or cone shaped tooth are seen. Nervous system affection shows delayed development, intellectual disability. There is slow motor development. Loss of movement is seen. Muscle spasms, seizures may occur. Cerebral atrophy may occur.
Investigations
Medical history by the patient and clinical examination by the doctor helps in diagnosis. Routine blood test is done. Skin biopsy is recommended. Imaging studies such as MRI may be useful for further evaluation.
Treatment
No specific treatment is available. Symptomatic treatment is given. Care should be taken to prevent secondary bacterial infection in skin lesions. Opinion of an ophthalmologist should be taken for eye abnormalities. Regular dental checkup is necessary for many patients during the first few years of life.
Complications
Complications such as infections of blistered skin, paralysis, and developmental disorder may occur.
When to Contact a Doctor
One must consult a doctor if there is a positive family history of the disease and the parents observe similar symptoms in the child.
Prevention
Genetic counseling when the couple is willing to conceive prevents the disease.
Systems involved
CNS, integumentary system
Organs involved
Skin, hair, nails, eyes, teeth, brain.
