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GlossaryGenodermatosis

inherited skin disorder caused by genetic mutations

Genodermatosis refers to a group of inherited skin disorders caused by genetic mutations. These conditions can affect the skin, hair, and nails, and often present from birth or early childhood. Examples include conditions like epidermolysis bullosa and neurofibromatosis.

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Vulvovaginal Involvement in Netherton Syndrome: A Case Report

research Vulvovaginal Involvement in Netherton Syndrome: A Case Report

January 2024 in “JAAD case reports”

Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.

Rothmund-Thomson Syndrome Type 2 – A Rare Cause of Chronic Wounds

research Rothmund-Thomson Syndrome Type 2 – A Rare Cause of Chronic Wounds

March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft”

Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.

research Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation

1 citations, January 2015 in “Journal of clinical case reports”

KFSD causes scarring hair loss and skin roughness, mainly in males.

P-19 A Case of Birt-Hogg-Dubé Syndrome Presented With Parathyroid Carcinoma

research P-19 A Case of Birt-Hogg-Dubé Syndrome Presented With Parathyroid Carcinoma

January 2024 in “JCEM case reports”

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy

research Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy

16 citations, March 2005 in “Journal of The American Academy of Dermatology”

A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.

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