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GlossaryLamellar Ichthyosis

rare genetic disorder causing thick, plate-like skin scales

Lamellar Ichthyosis (LI) is a rare genetic skin disorder characterized by the formation of large, dark, plate-like scales over the entire body. It is caused by mutations in genes responsible for skin cell shedding and barrier function, leading to excessively thickened skin and impaired moisture retention. This condition is present from birth and requires lifelong management to alleviate symptoms and prevent complications.

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research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene

10 citations, March 2015 in “Journal of dermatology”

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

research Surgical Approach of Ectropion in Lamellar Ichthyosis

February 2010 in “Journal of The American Academy of Dermatology”

Surgery on a baby with a skin disorder improved eyelid position and eye health.

research Collodion Baby to Bathing Suit Ichthyosis: A 6-Year Follow-Up

January 2022 in “Indian dermatology online journal”

A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.

research Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System

16 citations, April 2000 in “Journal of Investigative Dermatology”

The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.

research Sjogren-Larsson Syndrome: Case Report of a 21-Year-Old Woman

8 citations, November 2009 in “The Neurologist/The neurologist”

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.

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community Diffuse hair loss and scalp biopsies

in Research 692 upvotes 4 months ago

Scalp biopsies are crucial for diagnosing hair loss conditions like Diffuse Unpatterned Alopecia (DUPA) and retrograde hair loss, as treatments like finasteride and dutasteride may not be effective if other conditions are present. Combining PPAR-GAMMA agonists with retinoids could improve treatments for conditions like Lichen Planopilaris.