Harlequin type ichthyosis (HTI) is a very rare, but most severe subtype of autosomal recessive congenital ichthyosis (ARCI). Profound thickening of the skin is often described as "armor-like", which significantly impacts respiratory function and promotes dehydration, temperature changes, malnutrition, seizures, and infections of the skin. Sepsis and severe fluid loss are some of the most common causes of death in this patient population, who infrequently survive past the neonatal period and infancy. The diagnosis is made through a detailed clinical assessment and genetic studies that confirm characteristic mutations.
The clinical presentation of harlequin type ichthyosis universally starts from birth and the majority of neonates suffering from this condition are born prematurely   . The most distinct sign of harlequin type ichthyosis is the appearance of the skin as "armor-like" plates that are separated by fissures, which impairs movement of the body and predisposes to numerous life-threatening events     . The skin markedly reduces the amplitude of chest expansion, leading to respiratory distress and hypoxia, whereas dehydration and electrolyte disbalance, poor feeding (resulting in malnutrition), temperature dysregulation (both hyperthermia and hypothermia may be encountered), and bacterial infections of the skin are all consequences of skin thickening seen in HTI    . Sepsis, respiratory failure, and seizures are the main contributors to mortality in the early neonatal period, but up to 56% of patients might survive through this period    . Shedding of the "armor-like" skin and subsequent development of generalized erythema and scaling turns harlequin type ichthyosis into a debilitating chronic skin disorder in young children   . Alopecia, palmoplantar keratoderma along with painful fissures, contractures of digits, and ectropion are the main symptoms   . Microcephaly, facial fractures, and growth delay are also constitutive findings  .
Entire Body System
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Also, acknowledge the contribution of sonologists, pathologist and medical genetics, obstetric and nursing teams. Written consent: A written informed consent was obtained from her for publication of this case report and its accompanying images. [ncbi.nlm.nih.gov]
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A case is made for the inclusion of dentists in the management of these cases once a diagnosis is made. [ncbi.nlm.nih.gov]
- Nail Abnormality
Additionally, patients can have heat and cold intolerance, pruritus, and hair and nail abnormalities. 15 Physical and occupational therapy is key to optimizing range of motion in infancy and childhood as the hyperkeratotic skin can lead to encasement [doi.org]
After obtaining a detailed patient history, but more importantly, after a proper physical examination, the diagnosis of harlequin type ichthyosis should be straightforward. The physician plays a crucial role in recognizing the main cutaneous manifestations of this disorder and early recognition can be life-saving. Because of the frequent fatalities that are seen from HTI, a prenatal diagnosis is of great benefit. Amniotic fluid cell examination combined with ultrasonography of the fetus to assess the shape of the fetal mouth at 17 weeks of pregnancy is considered to be an effective method, as is skin biopsy at 24 weeks of pregnancy  . The autosomal recessive pattern of inheritance necessitates a thorough family history when clinical suspicion exists toward this rare condition, both in the prenatal and postnatal setting. To make a definite diagnosis, however, genetic studies need to be employed. Skin biopsies should be obtained after birth and used as a sample to test for mutations in the ATP-binding cassette, subfamily A, member 12 (ABCA12) gene, which are present in all individuals who develop harlequin type ichthyosis    . Furthermore, preventive screening of individuals with a known family history for harlequin type ichthyosis through analysis of ABCA12 gene is advocated  .
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