Hereditary mucoepithelial dysplasia

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC

Hereditary mucoepithelial dysplasia
Synonyms	HMD
Pronounce	N/A
Specialty	N/A
Symptoms	Alopecia, Erythema, Oral mucosal lesions, Keratitis
Complications	Vision impairment, Dental issues
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical examination, Genetic testing
Differential diagnosis	Ectodermal dysplasia, Lichen planus
Prevention	N/A
Treatment	Symptomatic treatment, Protective eyewear
Medication	Topical corticosteroids, Artificial tears
Prognosis	N/A
Frequency	Rare
Deaths	N/A

A rare genetic disorder affecting epithelial tissues

Hereditary mucoepithelial dysplasia (HMD) is a rare genetic disorder characterized by abnormalities in the epithelial tissues of the body. This condition primarily affects the skin, mucous membranes, and hair, leading to a variety of clinical manifestations.

Clinical Features

Individuals with hereditary mucoepithelial dysplasia often present with a range of symptoms due to the involvement of multiple epithelial tissues. Common clinical features include:

• Skin Abnormalities: Patients may exhibit erythema, hyperkeratosis, and alopecia. The skin may appear red and scaly, and there is often a loss of hair.
• Mucous Membrane Involvement: The mucous membranes, particularly those in the oral cavity, may show signs of leukoplakia and ulceration.
• Respiratory Issues: Due to the involvement of the respiratory epithelium, individuals may experience chronic cough and recurrent respiratory infections.
• Ocular Manifestations: Keratitis and conjunctivitis are common, leading to discomfort and potential vision problems.

Genetics

Hereditary mucoepithelial dysplasia is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific genetic mutations responsible for HMD have not been fully elucidated, but they are believed to affect the development and function of epithelial tissues.

Pathophysiology

The pathophysiology of hereditary mucoepithelial dysplasia involves defects in the epithelial cells that line various surfaces of the body. These defects lead to impaired barrier function and abnormal cell turnover, resulting in the clinical manifestations observed in affected individuals.

Diagnosis

Diagnosis of hereditary mucoepithelial dysplasia is primarily clinical, based on the characteristic features and family history. Biopsy of affected tissues may be performed to support the diagnosis, revealing specific histological changes in the epithelium.

Management

There is no cure for hereditary mucoepithelial dysplasia, and management is primarily supportive. Treatment focuses on alleviating symptoms and preventing complications. This may include:

• Skin Care: Use of emollients and topical treatments to manage skin symptoms.
• Oral Hygiene: Regular dental check-ups and oral care to prevent complications from mucous membrane involvement.
• Respiratory Support: Monitoring and treating respiratory infections promptly.
• Ophthalmologic Care: Regular eye examinations and treatment of ocular symptoms.

Prognosis

The prognosis for individuals with hereditary mucoepithelial dysplasia varies depending on the severity of symptoms and the presence of complications. With appropriate management, many individuals can lead relatively normal lives.

See also

• Epithelial tissue
• Genetic disorder
• Autosomal dominant
• Keratitis
• Leukoplakia