A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. [ncbi.nlm.nih.gov]

• Nail Abnormality

  1) AD; follicular atrophoderma of dorsal hands, abnormal hair & sweat glands, multiple BCC 2) acquired eczematous & psoriasiform lesions (ear, nose, dorsal hands, feet, knees), nail dystrophy & paronychial inflammation with SCC (GI, respiratory) (100% [readbag.com]

• Aphthous Stomatitis

  /AIDS Miliaris Aphthous Stomatitis Primary Aphthous Ulcers Congenital Disorder Erythema Annulare Centrifugum Keratolysis Exfoliativa 'Nevus 'Nevus Unilateral Laterothoracic Exanthem Villous Black Tongue Zoon's Balanitis Genetic Disorders Adnexae Genetic [pongpdf.com]

• Hyperkeratosis

  Hyperkeratosis, Epidermolytic [Disease/Finding], epidermolytic hyperkeratosis, EPIDERMOLYTIC ICHTHYOSIS, Bullous Ichthyosiform Erythroderma, Bullous Erythroderma Ichthyosiformis Congenita of Brocq, Erythrodermas, Bullous Ichthyosiform, Ichthyosiform [fpnotebook.com]

  Hyperkeratosis SOURCES: OMIM ORPHANET ICD10 SCTID More info about EPIDERMOLYTIC HYPERKERATOSIS; EHK Low match TYLOSIS WITH ESOPHAGEAL CANCER; TOC Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into [mendelian.co]

  All LI patients tested had an increased IL1A and treatment of wild-type organotypic cultures with IL1A was sufficient to induce hyperkeratosis. [ncbi.nlm.nih.gov]

• Alopecia

  […] hypernatremic dehydration; membrane shed in first few days to weeks of life Child/Adult Generalized large, dark, platelike scale increased in flexures; erythroderma; ectropion; palmoplantar keratoderma; decreased sweating with heat intolerance Hair: Scarring alopecia [cram.com]

  Alopecia Areata Acquired Hair Disorders/ Alopecia Areata Anagen Effluvium Pressure Alopecia Telogen Effluvium Trichostasis Spinulosa Noninflammatory Sweat Gland Disorders Anhidrosis Bromhidrosis Chromhidrosis Fish Odor Syndrome Hyperhidrosis Gustatory [pongpdf.com]

  The associated findings in some of the children were ectropion and alopecia. Contractures including pseudoainhum were also observed in some children. None of the patients' parents was found to be affected with a similar condition. [ncbi.nlm.nih.gov]

  In classical CIE (unlike LI) there is little eclabion (eversion of the lips), ectropion and alopecia (hair loss). Many people with ACRI don't fit neatly into the definition of LI or CIE but have characteristics of both diseases. [en.wikipedia.org]

• Blister

  Furthermore, the prevention of blistering by topical urea treatment supports the notion of primary intracorneal blister formation. [dokumen.tips]

  Affected areas can be erythematous, oedematous and blister. [pcds.org.uk]

  Diagnosis Infants and young children with Kindler syndrome have a tendency to blister with minor trauma and are prone to sunburns. As individuals with Kindler syndrome age, they tend to have fewer problems with blistering and photosensitivity. [dictionary.sensagent.com]

  Here we report a newborn with generalized erythema, blistering and erosions at the time of birth. No hyperkeratosis was seen on the palms and soles. The lack of palmoplantar involvement suggested that keratin 10 could be involved. [ncbi.nlm.nih.gov]

  The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. [mendelian.co]

• Cafe-Au-Lait Spots

  Presents with large cafe au lait spot, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities. Patient with genetic mosaicism can survive (women). [quizlet.com]

  Bullous Impetigo Bullous Pemphigoid Burn Bywater's Lesion Cafe Au Lait Macule Callus Candida Balanitis Candidiasis Carbuncle Cellulitis Chalazion Cheilitis Cheilitis Granulomatosa Cherry Angioma Chilblains Chondrodermatitis Nodularis Helicus Chromomycosis [pongpdf.com]

• Skin Pustule

  […] spots, MR, seizures, shagreen patches, subungual fibromas, vitiligo AKA tuberous sclerosis (20%) post jejunal bypass; malaise, myalgia, polyarthralgia, rash, sterile skin pustules SCC of genitals Cornelia de Lange s. recurrent epidemic typhus (Rickettsia [readbag.com]

Although collodion babies are a hallmark of most ARCI cases, clinicians should be aware of neonates with ARCI born without a collodion membrane and expedite appropriate workup and treatment. [ncbi.nlm.nih.gov]

[…] linked ichthyosis (p. 4) Congenital ichthyosiform erythroderma (p. 12) Netherton syndrome (p. 24) Trichothiodystrophy Skin biopsy in situ detection of transglutaminase 1 expression and activity Light microscopic hair examination (if alopecia) Sepsis workup [cram.com]

In the patients receiving treatment with retinoids, western blot and ELISA revealed an increase in the involucrin expression. [ncbi.nlm.nih.gov]

Microbial keratitis in patients with lamellar ichthyosis has a poor prognosis. [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]

Prognosis Prognosis is variable. During the neonatal period, there is a risk of sepsis and hydro-electrolytic troubles. The disease often remains stable over the life, with periods of exacerbation. The life expectancy is normal. [orpha.net]

[…] 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]

Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003;4: 81-95. Buxman M, et al. Therapeutic activity of lactate 12% lotion in the treatment of ichthyosis. Active versus vehicle and active versus a petroleum cream. [rarediseases.org]

Etiology LI is a genetically heterogeneous disease. It is due to mutations in genes TGM1, ABCA12, ALOX12B, and NIPAL4. [orpha.net]

Ichthyosis: Etiology, diagnosis, and management. Am J Clin Dermatol 2003;4:81-95. 2. Fleckman P, DiGiovanna JJ. The Ichthyosis. In: Kang S, editor. Fitzpatrick's Dermatology in General Medicine. [nigerianjournalofophthalmology.com]

[…] intertiginous areas - Flacid bullae - Tender - Positive Nikolsky's sign - May be life threatening > Treatment: - Oral prednisone - Immunsupressive agents Dermatitis herpetiformis - A cutaneous manifestation of gluten sensitivity - Strong autoimmune etiology [flashcardbook.com]

Over the last decade at least six different genes have been implicated in the etiology of ARCI, all of which encode proteins essential for the formation of the skin barrier: TGM1 [ 3, 4 ], ABCA12 [ 5, 6 ], two lipoxygenase genes ( ALOXE3 and ALOX12B ) [link.springer.com]

Summary Epidemiology It is the most common variant of autosomal recessive congenital ichthyosis (ARCI; see this term). Prevalence is estimated approximately at 1/100,000-1/1,000,000 individuals. [orpha.net]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

Association Between Psoriasis and Sexual and Erectile Dysfunction in Epidemiologic Stud... Preview https://www.ncbi.nlm.nih.gov/pubmed/30304327 JAMA Dermatology; Molina-Leyva A, Salvador-Rodriguez L et. al. [allmedx.com]

The epidemiology of vitamin D and cancer incidence and mortality: A review (United States). Cancer Causes Control 2005;16:83-95. 18. Schwartz GG, Hanchette CL. [e-ijd.org]

[…] to the barrier abnormality in ichthyoses remains unclear. [3] To date, six genes for lamellar ichthyosis have been localized and 5 of them identified, as follows [4] : TGM1 (14q11) ABCA12 (2q34) 19p12-q12 19p13 ALOXE3-ALOX12B (17p13) ichthyin (5q33) Epidemiology [emedicine.medscape.com]

Pathophysiology Patients with lamellar ichthyosis have accelerated epidermal turnover with proliferative hyperkeratosis, in contrast to retention hyperkeratosis. This involves a mutation in the gene for transglutaminase 1 ( TGM1 ). [emedicine.medscape.com]

To access images contained within the dermatology atlas, you can search by anatomical location, symptom, pathophysiology, lesion and diagnosis. [pongpdf.com]

Self-care measures, including daily bathing, exfoliation of skin, and moisturizing, are imperative in keeping the condition under control and preventing complications, as it prevents build up of skin cells and the attendant symptoms. [ozarkderm.com]

This case serves as a reminder that clinicians need to be aware of such an association in order to prevent, appropriately diagnose and adequately treat the rare case of congenital ichthyosis with rickets and osteomalacia. [ncbi.nlm.nih.gov]

Overheating – Severe scaling of the skin prevents normal sweating so hot weather or vigorous exercise can cause problems. [ichthyosis.org.uk]

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]