Acantholytic disorders of the skin [2 genes]

Among the acantholytic skin diseases, there are two entities of monogenic origin: Darier disease and Hailey-Hailey syndrome.

  • Darier disease: Disease characterized by the appearance of keratotic papules, acral punctate depressions, and acral wart-like lesions that can develop in any anatomical location (including mucosal surfaces). Extracutaneous manifestations may include nail abnormalities, blepharitis, dry eye, neuropsychiatric disorders, recurrent parotid gland obstruction, and xerostomia.
  • Hailey-Hailey disease (chronic benign familial pemphigus): It is characterized by fissures in the skin, located mainly in the armpits and the inguinal and perineal folds. The lesions appear after adolescence and do so recurrently.

  • Darier disease: 1 / 50,000 newborns.
  • Hailey-Hailey disease: unknown.

Service recommended when one of the two diseases contemplated in the service is suspected.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention or palliation of associated comorbidities.

Service indicated when there is a high suspicion that the patient suffers from one of the two diseases studied using this panel.

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Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

1) Download & fill out

Please cover as many fields as possible in both documents

2) Sample collection

See sample types in the guidelines

3) Pack the sample

Please pack the sample in a way to prevent leakage

4) Send the sample & the request

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5) Result: the report

Via: e-mail and/or through the customer portal

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Acantholytic disorders of the skin

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202313149

Acantholytic disorders of the skin: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of high-evidence genes related to Darier and Hailey-Hailey disease.

  • ATP2A2
  • ATP2C1

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

  • Darier disease.
  • Hailey-Hailey disease.

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