Poikiloderma hereditary acrokeratotic Weary type

Poikiloderma Hereditary Acrokeratotic Weary Type
[[File:|250px|]]
Synonyms	Weary Syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Skin atrophy, telangiectasia, hyperkeratosis
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Poikiloderma Hereditary Acrokeratotic Weary Type, also known as Weary Syndrome, is a rare genetic disorder characterized by a combination of skin changes, including poikiloderma, atrophy, and hyperkeratosis, primarily affecting the extremities. This condition is inherited in an autosomal dominant pattern.

Clinical Features

The hallmark features of Poikiloderma Hereditary Acrokeratotic Weary Type include:

• Poikiloderma: A combination of skin atrophy, telangiectasia, and pigmentation changes, typically presenting in a mottled pattern.
• Hyperkeratosis: Thickening of the skin, particularly on the palms and soles.
• Atrophy: Thinning of the skin, which may lead to increased fragility and susceptibility to injury.

Patients may also exhibit other dermatological manifestations such as:

• Nail dystrophy
• Palmoplantar keratoderma
• Photosensitivity

Genetics

Poikiloderma Hereditary Acrokeratotic Weary Type is caused by mutations in specific genes that are involved in skin development and maintenance. The exact genetic mutation responsible for this condition has not been fully elucidated, but it is known to follow an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene can cause the disorder.

Diagnosis

Diagnosis is primarily clinical, based on the characteristic skin findings. Genetic testing can be used to confirm the diagnosis and to differentiate it from other similar conditions such as Rothmund-Thomson syndrome or Dyskeratosis congenita.

Management

There is no cure for Poikiloderma Hereditary Acrokeratotic Weary Type, and treatment is focused on managing symptoms and preventing complications. Management strategies may include:

• Use of emollients and moisturizers to manage skin dryness and hyperkeratosis.
• Sun protection to prevent further skin damage due to photosensitivity.
• Regular dermatological assessments to monitor for potential complications such as skin cancer.

Prognosis

The prognosis for individuals with Poikiloderma Hereditary Acrokeratotic Weary Type varies. While the condition is lifelong, the severity of symptoms can differ significantly among affected individuals. Regular follow-up with healthcare providers is essential to manage the condition effectively.

Also see

• Poikiloderma
• Genetic skin disorders
• Rothmund-Thomson syndrome
• Dyskeratosis congenita

Dermatology and Rheumatologic diseases A - Z

A | B | C | E | F | G | H | I | J | K | L | M | O | P | R | S | T | V

Glossary of dermatology