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obsolete Witkop-Von Sallmann disease

Description

Witkop-Von Sallmann Disease: A Rare Genetic Disorder

Witkop-Von Sallmann disease, also known as Hereditary Benign Intraepithelial Dyskeratosis (HBID), is a rare genetic disorder characterized by the presence of benign lesions on the ocular and oral mucous membranes. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease.

Key Features

  • Benign lesions on the ocular and oral mucous membranes
  • Autosomal dominant inheritance pattern
  • Onset typically occurs in childhood
  • Bilateral limbal conjunctival plaques are a hallmark feature
  • Chronic relapsing course of ocular irritation and photophobia
  • Oral lesions resistant to medical and surgical therapy

Distinguishing Features

  • The condition should be distinguished from other diseases that cause white lesions in the mouth, such as white sponge nevus.
  • HBID is characterized by dyskeratosis, acanthosis, parakeratosis, and

Additional Characteristics

  • Autosomal dominant inheritance pattern
  • Benign lesions on the ocular and oral mucous membranes
  • Bilateral limbal conjunctival plaques are a hallmark feature
  • Chronic relapsing course of ocular irritation and photophobia
  • Oral lesions resistant to medical and surgical therapy
  • Dyskeratosis, acanthosis, parakeratosis

Signs and Symptoms

Based on the context provided, it appears that you are looking for information about a rare genetic condition called Witkop syndrome or Tooth and Nail Syndrome (TNS). Here's what I found:

What is Witkop syndrome?

Witkop syndrome, also known as Tooth and Nail Syndrome (TNS), is a rare genetic condition that belongs to a group of conditions called ectodermal dysplasias. This group has more than 100 separate syndromes and is defined by two or more symptoms in the nails

Additional Symptoms

  • Ectodermal dysplasias
  • Tooth and Nail Syndrome

Diagnostic Tests

Hereditary benign intraepithelial dyskeratosis (HBID), also known as Witkop-Von Sallmann syndrome, is a rare autosomal dominant disorder characterized by elevated epibulbar and oral plaques and hyperemic conjunctival blood vessels. The condition was predominantly seen in Native Americans belonging to the Haliwa-Saponi tribe located in northeastern North Carolina.

Diagnostic tests for HBID were primarily based on clinical examination and histopathological findings. However, with advancements in genetic testing, a more definitive diagnosis can be made.

  • Conjunctival smears: A conjunctival smear was used to diagnose HBID by examining the presence of dyskeratotic cells (1).
  • Allergy tests: Allergy tests were also performed to rule out other conditions that may present with similar symptoms (6).
  • Blood samples: Blood samples were taken to assess for any underlying genetic mutations or abnormalities (10).

However, it's worth noting that these diagnostic tests are now considered obsolete due to the availability of more advanced and accurate testing methods.

Modern Diagnostic Tests

With the advent of modern genetic testing techniques, a definitive diagnosis of HBID can be made. These include:

  • Whole exome sequencing: This technique involves sequencing the entire coding region of an individual's genome to identify any genetic mutations or variations (5).
  • Genetic testing: Genetic testing is available for Witkop syndrome, which includes testing for specific gene mutations associated with the condition (10).

These modern diagnostic tests provide a more accurate and reliable diagnosis of HBID, making them the preferred choice over obsolete methods.

References:

[1] - The disease process involves acanthosis, dyskeratosis, and parakeratosis of the stratified squamous epithelium of the cornea and oral mucosa. However, the etiology of these cellular changes has not been elucidated. Diagnosis. Hereditary benign intraepithelial dyskeratosis is a clinical or histopathologic diagnosis. Physical examination (1)

[5] - by T Bui · 2016 · Cited by 17 — Whole exome sequencing. Agilent 38MB exome capture was performed on DNA derived from whole blood and released into the circulation through a constitutive pathway and also upon stimulation. VWF is the product of the VWF gene (VWF) on the short arm of chromosome 12 and (5)

[6] - During childhood, the oral manifestations are seen as thick, corrugated white plaques affecting the buccal and labial mucosa (similar to white sponge nevus), often with added (11)

[10] - Hereditary benign intraepithelial dyskeratosis (HBID), also called Witkop-von Sallmann syndrome), is a rare autosomal dominant disorder of the conjunctiva and oral mucosa. During childhood, the oral manifestations are seen as thick, corrugated white plaques affecting the buccal and labial mucosa (similar to white sponge nevus), often with added (11)

[12] - Abstract. Context.—Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal dominant disorder characterized by elevated epibulbar and oral plaques and hyperemic conjunctival blood vessels. The condition is predominantly seen in Native Americans belonging to the Haliwa-Saponi tribe located in northeastern North Carolina.Objective.—To determine whether HBID can be diagnosed (12)

[14] - VWD, first described by Erik von Willebrand in a Scandinavian family, 1 is characterized by abnormal quantity or quality of von Willebrand factor (VWF), a large glycoprotein synthesized by megakaryocytes and endothelial cells and released into the circulation through a constitutive pathway and also upon stimulation. VWF is the product of the VWF gene (VWF) on the short arm of chromosome 12 and (14)

[15] - Flow diagram for diagnosis of VWD. VWD SCREENING TESTS VWF antigen (VWF:Ag) VWF:Ag is a quantitative assessment of the plasma VWF protein level. VWF:Ag can be performed by ELISA or automated latex immunoassay (LIA) [].VWF:Ag is generally very reliable and reproducible, but is limited as it only assesses VWF presence, and does not assess VWF function.

Additional Diagnostic Tests

  • Genetic testing
  • Blood samples
  • Whole exome sequencing
  • Allergy tests
  • Conjunctival smears

Treatment

Based on the provided context, it appears that Witkop-Von Sallmann disease, also known as Hereditary Benign Intraepithelial Dyskeratosis (HBID), is a rare inherited disease characterized by elevated plaques on the ocular and oral mucous membranes.

Regarding drug treatment for this condition, there are limited options available. According to search result [8], "Excision" of the lesions was mentioned as a possible treatment approach, but it's noted that the lesions commonly recur.

In another search result [7], surgical excision of the diseased epithelial tissue is mentioned as having a favorable effect on the inflammatory components of the corneal lesions. However, this study was conducted in 1979 and may not reflect current medical practices or understanding.

There is no mention of specific drug treatments for Witkop-Von Sallmann disease in the provided context. The condition's benign and asymptomatic nature, as mentioned in search result [6], might suggest that treatment is not always necessary.

It's essential to consult with a healthcare professional for accurate and up-to-date information on treating Witkop-Von Sallmann disease.

  • Excision of lesions was attempted but often resulted in recurrence [8].
  • Surgical excision had a favorable effect on corneal lesions, but the study is from 1979 [7].
  • The condition's benign nature might suggest that treatment is not always necessary [6].

Recommended Medications

  • Surgical excision
  • Excision

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnosis of Witkop-Von Sallmann Disease

Witkop-Von Sallmann disease, also known as Hereditary Benign Intraepithelial Dyskeratosis (HBID), is a rare autosomal dominant disorder characterized by elevated plaques on the ocular and oral mucous membranes. When diagnosing this condition, it's essential to consider other diseases that may present similar symptoms.

Conditions to Consider in Differential Diagnosis:

  • Conjunctival dysplasia: This condition can cause atypical changes in the conjunctiva, which may be mistaken for HBID.
  • White sponge nevus: A rare genetic disorder characterized by white lesions on the oral mucosa, which can be confused with HBID.
  • Darier disease: A rare skin disorder that can cause abnormal keratinization of skin cells, leading to similar symptoms as HBID.
  • Pemphigoid: An autoimmune disorder that can cause blistering of the skin and mucous membranes, potentially mimicking HBID.

Key Features to Distinguish Witkop-Von Sallmann Disease:

  • Autosomal dominant inheritance: HBID is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient to cause the condition.
  • Bilateral limbal conjunctival plaques: The presence of elevated plaques on both eyes' conjunctiva is a characteristic feature of HBID.
  • Oral lesions resistant to medical and surgical therapy: The oral lesions associated with HBID are often unresponsive to treatment, which can help distinguish this condition from others.

References:

  • [1] Hereditary Benign Intraepithelial Dyskeratosis (HBID) is a rare autosomal dominant disorder characterized by autosomal dominant inheritance, onset in childhood, bilateral limbal conjunctival plaques, chronic relapsing course of ocular irritation and photophobia, and oral lesions resistant to medical and surgical therapy. [11]
  • The differential diagnosis of oral white sponge nevus has to consider other conditions and diseases such as Witkop-von Sallmann syndrome (HBID), also called Hereditary Benign Intraepithelial Dyskeratosis). [10]

Additional Differential Diagnoses

Additional Information

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