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]

Present case report describes a case of Lamellar Ichthyosis. [medcraveonline.com]

• 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]

• Hyperthermia

  His other clinical findings included ectropion, hair loss, hypohidrosis, hyperthermia in summer, palmoplantar keratoderma and constriction of the fingers. [ncbi.nlm.nih.gov]

• Regurgitation

  Echocardigraphy showed high frequency ectopics, mild mitral and tricuspid regurgitation. Diagnosis of LI with rickets and carcinoma hypopharynx was made based on the clinical findings, biochemical and histopathology and radiography reports. [e-ijd.org]

  Ramsay-Hunt s. lower extremities, calcified arteries, coronary insufficiency, hypertension, mitral valve prolapse, GI hemorrhage AKA nevus elasticus Majocchi's d. flushing of nail beds synchronous with heartbeat; aortic regurgitation folliculitis decalvans [readbag.com]

• Systolic Murmur

  Cardiovascular examination showed a pre-systolic murmur in the aortic region, and occasional rhonchi in respiratory examination. [e-ijd.org]

• Severe Osteoporosis

  The evidence of severe osteoporosis with hyperparathyroidism secondary to malabsorption suggested the occurrence of celiac disease. Endoscopy with multiple duodenal biopsies revealed total villous atrophy. [ncbi.nlm.nih.gov]

• Lagophthalmos

  The two patients with lagophthalmos at the time of tazarotene initiation experienced complete resolution. No adverse effects were reported. [ncbi.nlm.nih.gov]

  Figure 1 Lower eyelid ectropion, cicatricial lagophthalmos, and severe chronic blepharitis in lamellar ichthyosis with toe pseudoainhum. [nature.com]

  Lagophthalmos may develop, exposure keratitis occurs because of drying of the cornea, making it susceptible to minor trauma, and may result in corneal ulceration, vascularization, and corneal scarring. References 1. Williams ML, Elias PM. [ijdvl.com]

• Foreign Body Sensation

  We report a rare case of bilateral spontaneous corneal perforation in a patient with lamellar ichthyosis .The patient presented with complaints of diminution of vision, foreign body sensation, watering and discharge in both of his eyes for the last three [ncbi.nlm.nih.gov]

  Case : We report a rare case of bilateral spontaneous corneal perforation in a patient with lamellar ichthyosis .The patient presented with complaints of diminution of vision, foreign body sensation, watering and discharge in both of his eyes for the [nepjol.info]

• 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]

  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]

  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]

  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]

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]

• Prolonged QT Interval

  Electrocardiography showed sinus rhythm with premature atrial complexes, aberrant conduction, low voltage QRS complex (Q-wave, R-wave and S-wave), nonspecific T-wave abnormality and prolonged QT interval. [e-ijd.org]

• T Wave Abnormality

  Electrocardiography showed sinus rhythm with premature atrial complexes, aberrant conduction, low voltage QRS complex (Q-wave, R-wave and S-wave), nonspecific T-wave abnormality and prolonged QT interval. [e-ijd.org]

• White Matter Lesions

  Possible relationships between the white matter lesions and extrinsic toxic agents are discussed. [ncbi.nlm.nih.gov]

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]

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]

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]

[…] 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]

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]

[…] 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]

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]

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]

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]

[…] 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]

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]

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]