Rombo syndrome

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Rombo syndrome
Autosomal dominant - en.svg
Synonyms
Pronounce
Specialty Dermatology, Genetics
Symptoms Atrophoderma vermiculatum, telangiectasia, basal cell carcinoma, hypotrichosis, trichoepitheliomas
Complications N/A
Onset Childhood
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks
Diagnosis Clinical evaluation, genetic testing
Differential diagnosis
Prevention N/A
Treatment Symptomatic treatment, regular skin examinations
Medication
Prognosis Generally good with management
Frequency Rare
Deaths


Rombo syndrome is a rare genetic disorder characterized by distinctive skin abnormalities, a predisposition to certain types of skin cancer, and other systemic manifestations. The syndrome was first described in the medical literature in the early 1980s.

Presentation[edit | edit source]

Individuals with Rombo syndrome typically present with a variety of skin abnormalities that become apparent in early childhood. These include:

Genetics[edit | edit source]

Rombo syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene or genes associated with Rombo syndrome have not yet been identified.

Diagnosis[edit | edit source]

The diagnosis of Rombo syndrome is primarily clinical, based on the characteristic skin findings and family history. Genetic testing may be used to rule out other conditions with similar presentations.

Management[edit | edit source]

There is no cure for Rombo syndrome, and treatment is primarily supportive. Management strategies may include:

  • Regular dermatological evaluations to monitor for skin cancer.
  • Use of sunscreens and protective clothing to minimize sun exposure.
  • Cosmetic treatments for skin lesions, such as laser therapy.

Prognosis[edit | edit source]

The prognosis for individuals with Rombo syndrome varies. While the skin abnormalities are typically benign, there is an increased risk of developing basal cell carcinoma and other skin cancers, which requires ongoing surveillance and management.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD