The common characteristic among all congenital ichthyosis types is the abnormal cornification and keratinization of the skin, resulting in dry scales that cover various body parts. Skin inflammation and systemic symptoms can accompany the dermatologic alterations, as can pruritus, anhidrosis, ectropion, and an irregularly dense stratum corneum [1]. Frequently, manifestations are clearly noted at birth. More specifically:

• Lamellar ichthyosis: It results in the clinical picture of a "collodion baby". The collodion is a translucent membrane that is firmly attached to the newborn skin and falls of after approximately 2 weeks. Underneath the collodion membrane, scales that could attribute to a fish-like, disfiguring image are revealed [2]. Large scales are more commonly observed in the legs and feet, and superficial fissures can be found in-between. Palms and soles can be severely affected, with hyperkeratotic plaques covering the entire area; scales may also appear on the scalp, leading sometimes to scarring alopecia [3]. Ectropion is frequently diagnosed, and seizures caused by thermoregulatory problems may further complicate the clinical picture [4].
• X-linked ichthyosis: Scales are usually found on the torso and lower and upper extremities; as the patient ages, they may assume a darker color. The palms, mid-face, antecubital and popliteal fossae are primarily scale-free. Female patients bearing the gene do not usually exhibit symptomatology, whereas male newborns develop the first symptoms either at birth or immediately after: some may be collodion babies, while others may only display peeling and shedding, with no scales on the soles and palms [5] [6].
• Congenital ichthyosiform erythroderma: Another rare occurrence of congenital ichthyosis which is inherited as an autosomal recessive disease. The disorder is characterized by fine white scales and widespread erythroderma. Ectropion, alopecia affecting the scalp, anhidrosis, deformed nails, and eclabium are also characteristic manifestations of this congenital ichthyosis type [7].
• Ichthyosis vulgaris: Scales are primarily located on the elbows and calves; they are colored darker if the skin pigmentation is darker. Cracks may appear on the skin. An aggravation of the symptomatology is observed in the dry or cold environment.
• Epidermolytic hyperkeratosis: The condition is diagnosed at birth, with blistering areas covering the skin. Hyperkeratotic lesions start to develop a few months following birth; with time, blisters start to appear less often. Other coexisting disorders, not related to skin peeling and hyperkeratosis, such as hypocalcemic rickets and platelike osteoma cutis have also been rarely reported [8] [9].

• Turkish

  Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. Turk J Pediatr 2017; 59: 475-482. [ncbi.nlm.nih.gov]

  Ichthyosis. ( 28815772 ) Hanson B....Maguiness S. 2017 34 A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease. ( 28747283 ) Morita-Adachi R....Akiyama M. 2017 35 Identification of two novel PNPLA1 mutations in Turkish [malacards.org]

  For example, only two reports on mutations in CERS3 have been published on consanguineous Turkish and Tunisian families. 3, 4 Here we ascertained a large cohort of 140 distinct Iranian families affected by non-syndromic and syndromic forms of ichthyosis [nature.com]

• Alopecia

  The hair loss is obviously a consequence of the ichthyosiform erythroderma, and therefore we propose for this type of pseudopelade the term alopecia ichthyotica. [ncbi.nlm.nih.gov]

  In contrast, alopecia ichthyotica is a much neglected sign [4], though it may be of similar diagnostic value. [link.springer.com]

  Alopecia areata and vitiligo are autoimmune skin diseases which gives hair loss and depigmentation. [lnu.diva-portal.org]

• Suggestibility

  The genetic defect was mapped to a region near the proximal end of chromosome 2 by SNP analysis, suggesting Fatp4/Slc27a4 as a candidate gene. [ncbi.nlm.nih.gov]

• Phenylketonuria

  […] ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report Xiong Wang, Lu Tan, Na Shen, Yanjun Lu & Ying Zhang BMC Medical Genetics (2018) Molecular genetics of a cohort of 635 cases of phenylketonuria [nature.com]

• Seizure

  He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. [ncbi.nlm.nih.gov]

  Ectropion is frequently diagnosed, and seizures caused by thermoregulatory problems may further complicate the clinical picture. [symptoma.com]

  The skin can be ichthyotic and severe mental retardation is often accompanied by seizures. [disorders.eyes.arizona.edu]

The various types of congenital ichthyosis are usually diagnosed at birth, based on the characteristic appearance of the newborn. In dubious cases, skin biopsy and histological analysis should be employed to ascertain a diagnosis. Steroid sulfatase activity (STS activity), cholesterol sulfate concentration, and genetic testing may be required to diagnose X-linked ichthyosis; lamellar ichthyosis can also be diagnosed via genetic testing. Single-gene testing may be chosen on some occasions [10].

The differential diagnosis should comprise Refsum disease, neutral lipid storage disease, Sjögren-Larsson syndrome, and Netherton syndrome. A complete workup also requires blood laboratory studies such as serum angiotensin-converting enzyme, lysozyme, complete blood count (CBC), thyroid-stimulating hormone (TSH), triiodothyronine (T3), thyroxine (T4), as well as a chest radiography. Sometimes, congenital ichthyosis can also be detected prenatally via ultrasonography: a persistently open mouth, thick amniotic fluid, and persistently flexed extremities do suggest the possibility of ichthyosis. Diminished serum unconjugated estriol detected in the mother's blood during the period of pregnancy raises suspicion for X-linked ichthyosis.

This suggests topical enzyme replacement therapy may be a promising future treatment. Oji V, Tadini G, Akiyama M, et al. [phillyderm.org]

The oral acitretin treatment is efficient in severe congenital ichthyosis. [ncbi.nlm.nih.gov]

What is the prognosis for a person with TGM1-related Autosomal Recessive Congenital Ichthyosis? Individuals affected with TGM1-related ARCI generally have a good prognosis with early treatment. [counsyl.com]

These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. [ncbi.nlm.nih.gov]

[…] body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis [books.google.de]

The severely compromised epidermal barrier presents the greatest challenge during the newborn period and advances in neonatal care have significantly improved the prognosis. [em-consulte.com]

Distinguishing between these disorders on clinical grounds can be useful for clarifying prognosis and management and, to some extent, to choose which genes to analyze. [genedx.com]

The presence of a significant percentage of CERS3 mutations in our cohort depicts a marked difference between the etiology of ichthyoses in genetically poorly characterized regions and well-characterized western populations. [ncbi.nlm.nih.gov]

They contribute to mortality and morbidity among children in Nigeria and the exact etiology is unknown. However genetic and environmental factors among others are commonly implicated. [ajol.info]

Etiology LI is inherited in an autosomal recessive fashion. Six genes have been isolated, TGM1 (the gene for transglutaminase-1), ABCA12, NIPAL4 (also known as ICHTHYIN), CYP4F22, ALOX12B, and ALOXE3. [dermatologyadvisor.com]

Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification. Hautarzt 2010;61:891-902. 2. Ramar K, Annamalai S, Hariharavel VP, Aravindhan R, Ganesh C, Ieshwaryah K. [ijpd.in]

Previous data suggest that the demographic features specific to Middle Eastern populations, such as a high frequency of consanguineous marriages, may have an effect on the molecular epidemiology of genodermatoses. [ncbi.nlm.nih.gov]

The second one was an epidemiological study (144 patients) that used the same capture-recapture method [ 14 ]. [ojrd.biomedcentral.com]

[…] autosomal recessive congenital ichthyosis. ( 30007077 ) Polubothu S...Kinsler VA 2018 14 Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis. ( 30011118 ) Hotz A...Fischer J 2018 15 Results of a nationwide epidemiologic [malacards.org]

Epidemiology Frequency United States Ichthyosis vulgaris is the most common form and is an autosomal dominant trait with an incidence of 1 case per 300 population. [emedicine.medscape.com]

However, little is known about the molecular epidemiology and pathophysiology of this genetically and clinically heterogeneous group of severe disorders of keratinization. [ncbi.nlm.nih.gov]

Neonatology, Pathophysiology and management of the newborn. 4 th ed. Philadelphia, JB Lippincott 1994, pg425. Suresh S, Vijayayalakshmi R, Indrani S, Lata M. Short foot length. A diagnosic pointer for Harlequin Ichthyosis. [fetalultrasound.com]

[…] epidermolytic leukoplakia Terminology Other names: Epidermolytic ichthyosis Bullous congenital ichthyosiform erythroderma Bullous ichthysosis Bullous erythroderma ichthyosiformis congenita of Brocq Disorder of cornification type 3 Vorner's syndrome Pathophysiology [pathologyoutlines.com]

Despite the pronounced initial upper eyelid ectropion no surgery was required to relieve the ectropion or prevent corneal exposure. [ncbi.nlm.nih.gov]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]

Moisturizers Prevention of overheating Eye drops (to prevent the eyes from becoming dried out) Systemic Retinoids ( isotretinoin and acitretin are very effective, but careful monitoring for toxicity is required. [en.wikipedia.org]

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2. Gul Z, Khan GA, Liaqat F, Muqarrab K. A New Born with Lamellar ichthyosis(Collodion Baby). J Coll Physicians Surg Pak. 2015;25(8):621-622.
3. Osório F, Leão M, Azevedo F, Magina S. Lamellar ichthyosis due to ALOX12B mutation. Actas Dermosifiliogr. 2013;104 (5):443-444.
4. Briley JJ, Sirota-Rozenberg S. Diagnosis: Lamellar Ichthyosis. Dermatologist.2008.;16(10)
5. Elias PM, Williams ML, Choi EH, Feingoldd KR. Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis.Biochim Biophys Acta. 2014;1841(3): 353–361.
6. Elias PM, Williams ML, Schmuth M, Crumrine D, editors. Ichthyoses—clinical, biochemical, pathogenic and diagnostic assessment. Karger; Basel: 2010. pp. 30–88.
7. Choudhary R, Satish V. Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia. Int J Clin Pediatr Dent. 2015;8(2):157–162.
8. Bhat YJ, Baba AN, Manzoor S, Qayoom S, Ahmed SM. Bullous icthyosiform erythroderma with rickets in child of a parent with naevus unius lateralis. Indian J Dermatol Venereol Leprol. 2010;76(2):192-194.
9. Blalock TW, Teague D, Sheehan DJ. Epidermolytic hyperkeratosis and congenital platelike osteoma cutis in a child. Cutis. 2011;87(6):278-280.
10. Gabriele Richard. Autosomal Recessive Congenital Ichthyosis. GeneReviews®.(https://www.ncbi.nlm.nih.gov/books/NBK1420/). Last Update: May 18, 2017.