LHarlequin ichthyosis is a genetic disease. It is so defined since Skindue to the pathology, it is split into large quadrangular plates reminiscent of the colored patches of the famous mask. To cause it are the recessive mutations in the gene ABCA12.
Ichthyosis
«The term ichthyosis identifies a very large group of diseases rareboth clinically and genetically heterogeneous, since involve several genes. They are then divided into ichthyosis non-syndromic and syndromic. In general they involve aalteration of the skin barrier very important and the proliferation of the superficial layers with formation of scales. The skin, in fact, due to the presence of scales, is compared to that of fish. Hence the term ichthyosis. Syndromic ichthyosis, in addition to the skin, also affect other organs, with metabolic, neurological implications, eye disorders, allergies», Explains Dr. May El Hachem, Head of Dermatology at theBambino Gesù Pediatric Hospital.
How it occurs on the skin
“It usually occurs at birth. The newborn presents the skin all redcalled erythroderma, or scales of variable color, spread or almost spread throughout the body. They can be greyish or whitish, thin or thick, large or small. What varies is also the dryness of the skin. The facial features are strongly altered. In fact, there may be a severe ectropion, that is an ocular malformation that manifests itself with the slightly open eyelids. There may also be a labial malformation, the eclabium, that is lips turned inside out. They also appear altered nose, which is widerand auricles which may be as if crumpled. In addition, small patients may present injuries, fissures or fissures. In particular, the lesions can be moist or blistering, ”continues the expert.
Other related issues
“In addition to these aspects, children with ichthyosis often present joint contractures or adhesions: especially hands and feet do not move well. Other often related clinical signs are the growth retardation, short stature, nail abnormalities and alopecia. Little patients present at birth as wrapped in a sheath, the collodium baby. This gradually exfoliates, cuts, leaving obvious deformities of the face and possible joint problems. Also thermoregulation is impaired. Sick people lose proteins and electrolytes through the skin, have poor tactile sensitivity. If the eyes remain open they create dry conjunctiva problemsinverted lips entail difficulty in nutrition», Emphasizes Doctor El Hachem.
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Harlequin ichthyosis
“It is the most severe form. It is included in the rare diseases ed it is very rare. The sheaththe collodium baby, which envelops the newborn it is extremely thick and, in addition to altering the features and causing contractures, often necessitates the amputation of the fingers. The skin is altered, therefore also the skin barrier, which exposes the patient to infections and respiratory problems. The latter are caused by the failure to expand the rib cage, since it is “harnessed” in the sheath. Until a few years ago this disease was lethal. Today, with the progress of science, fortunately it is compatible with life. However, it is important to start the therapy from birth orally in order to achieve improvements “, reassures the expert.
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