Congenital ichthyosiform erythroderma (CIE) belongs to a spectrum of clinical entities belonging to autosomal recessive congenital ichthyosis, with shared features of generalized scaling and erythema. CIE is considered to be a severe subtype, distinguished by a neonatal onset of palmoplantar keratoderma, painful fissures, contractures of the digits, an eyebrow loss, and ectropion. The diagnosis is made by observing the main manifestations, whereas skin biopsies and genetic studies can be used for confirmation.
Autosomal recessive congenital ichthyosis (ARCI) is a term encompassing a group of rare disorders who share the same pathophysiological basis of the disease - impaired keratinization of the skin due to various hereditary mutations    . Specifically, the keratinocytes are unable to create crucial lipid molecules in the stratum corneum that are involved in protection from the external environment . Depending on the severity of the disorder, a few distinct phenotypes exist - lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and harlequin ichthyosis regarded as the most dangerous and life-threatening form of ARCI   . Congenital ichthyosiform erythroderma is mainly regarded as a severe form of ARCI, with first manifestations presenting as early as at birth - palmoplantar keratoderma, generalized redness of the skin, and diffuse white scaling   . Due to the loss of skin integrity, fissures and digital contractures, particularly in severe cases, are quite common   . In addition to these findings, many patients develop various other manifestations such as ectropion and loss of eyebrows. An abnormal lip formation (eclabium) have also been described  .
Entire Body System
These defects in the keratin protein network result in subsequent skin cell collapse and skin fragility. This clinically manifests as blistering, hyperkeratosis, and hyper proliferation. Onset of BCIE typically occurs in newborns. [austinpublishinggroup.com]
However, the condition may be diagnosed with a simple physical examination Complete blood count (CBC) Examination of peripheral blood smear under a microscope by a pathologist Genetic testing of a blood sample for specific types of mutations can help [dovemed.com]
- Genu Valgum
We present two cases of ichthyosiform erythroderma associated with severe bilateral genu valgum. Other musculoskeletal features associated with this condition are described. [ncbi.nlm.nih.gov]
- Short Arm
X-linked ichthyosis (steroid sulphatase deficiency) and X-linked ocular albinism have been mapped to the Xp22.3 region and cases have been reported with both conditions due to a partial short-arm deletion of the X chromosome. [ncbi.nlm.nih.gov]
The diagnosis of congenital ichthyosiform erythroderma and other forms of ARCI rests on the ability of the physician to recognize the main cutaneous manifestations in the neonatal period. For this reason, the physical examination is the pivotal step in confirming any type of ARCI. Because CIE develops through an autosomal recessive pattern of inheritance, a detailed family history, which could potentially reveal similar findings in close relatives, is equally important.
Although clinical findings are considered to be sufficient to make the diagnosis of congenital ichthyosiform erythroderma, additional studies that may solidify suspicion are a histological examination of the skin and genetic studies. Main findings on skin biopsy samples include hyperkeratosis, increased mitotic activity, an abundance of blood vessels in the dermis, and a lymphocytic infiltrate . The presence of mutations in any of the 12 genes that have been identified in many patients (most frequent genes involved are ABCA12, TGM1, ALOX12B, NIPAL4) may serve as a confirmation . However, up to 15% of families in whom this condition is present do not possess any of the genetic mutations previously described in the literature . Hence, clinical criteria remain the cornerstone in recognizing CIE.
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