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Lamellar Ichthyosis

LI


Presentation

  • It may present with extensive skin lesions and should be considered a diagnostic possibility in sick neonates.[ncbi.nlm.nih.gov]
Nail Abnormality
  • .; gustatory sweating in malar area following parotid gland damage pigmentary demarcation between dorsal & ventral forearm AKA type A lines, Voigt's lines AD; diffuse glove & stocking keratoderma with constricting digital bands, nail abnormalities, angular[readbag.com]
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]
Chemosis
  • There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze. The anterior chamber, iris, lens and fundus appeared normal.[ncbi.nlm.nih.gov]
  • There was marked ectropion of the upper eyelids, with mild conjunctival chemosis, bilateral absence of the eyebrows and eyelashes [Figure 1]. The lids were separated gently with a lid retractor.[ojoonline.org]
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]
Genu Valgum
  • We describe a case of lamellar ichthyosis with bilateral genu valgum. The association of genu valgum with congenital ichthyosis is rare. Our patient, a 22-year-old girl, had lamellar ichthyosis and was born with a collodion membrane.[ncbi.nlm.nih.gov]
  • Less common associations include orthopedic abnormalities such as genu valgum, other ocular problems such as corneal perforation, and rickets. [7] Like other ichthyoses, lamellar ichthyosis may be especially prone to widespread, severe, and chronic Trichophyton[emedicine.medscape.com]
  • valgum Carious teeth Papule Myelitis White forelock Bilateral choanal atresia Anonychia Choanal atresia Recurrent otitis media Conjunctivitis Hoarse voice Atresia of the external auditory canal Widely spaced teeth Hammertoe Increased body weight Supernumerary[mendelian.co]
  • […] inborn error of metabolism; GMI type 1 gangliosidosis AD; beaded hair that breaks less than an inch long xanthoma disseminatum abnormal teeth; congenital syphilis AKA mulberry molars AR; mucopolysaccharidosis, excretion of keratan sulfate in urine, genu[readbag.com]
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]
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]
  • […] with follicular lichen planus of skin & scalp, may be associated with noncicatricial alopecia of axillae & pubic areas AKA Graham-Little-Piccardi-Lassueur s.[readbag.com]

Workup

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

Treatment

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

Prognosis

  • 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]
  • […] 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]
  • Although these phenotypes are now recognized to fall on a continuum, the phenotypic classification can be clinically useful for clarifying prognosis and management for individuals and, to some extent, to choose which genes to analyze.[genedx.com]

Etiology

  • 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]
  • […] and 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]

Epidemiology

  • 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]
  • 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 JAMA Dermatology; Molina-Leyva A, Salvador-Rodriguez L et. al. Oct 12th, 2018 - Sexual health is a major aspect of life.[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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • This report reviews the literature on the surgical management of this condition and suggests several modifications to prevent recurrence.[ncbi.nlm.nih.gov]
  • 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]
  • Overheating – Severe scaling of the skin prevents normal sweating so hot weather or vigorous exercise can cause problems.[ichthyosis.org.uk]

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