autosomal dominant dyskeratosis congenita 1

Autosomal dominant dyskeratosis congenita (DC) is a rare genetic disorder that affects the telomeres, which are the protective caps on the ends of chromosomes. This condition can be inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder.

Characteristics:

• Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia [8].
• The condition can also be associated with other symptoms such as short stature, skin atrophy, and bone marrow failure [3].

Genetic basis:

• Autosomal dominant DC is caused by mutations in genes important in telomere biology, including TERC (3q26.2), TERT (5p15.33), TINF2 (14q12),

Based on the available information, here are the signs and symptoms of autosomal dominant dyskeratosis congenita:

• Classic triad: The condition is characterized by a classic triad of:
  • Nail dysplasia [3][5][6]
  • Skin pigmentary changes, specifically lacy reticular pigmentation on the upper chest and/or neck [3][5][6]
  • Oral leukoplakia, which is a white patch or plaque in the mouth that cannot be rubbed off [3][5][6]
• Additional signs and symptoms: Some people with autosomal dominant dyskeratosis congenita may also experience:
  • Eye abnormalities, such as narrow tear ducts that may become blocked [1][4]
  • Premature graying of the hair [7]
  • Osteoporosis [8]
  • Epiphora (excessive tearing) [4]
  • Dental abnormalities [8]
  • Testicular atrophy [8]
  • Gastrointestinal disease [8]

Please note that these symptoms may not be present in all individuals with autosomal dominant dyskeratosis congenita, and the severity of the condition can vary widely.

Based on the provided context, here are the diagnostic tests for autosomal dominant

Based on the provided context, it appears that there are limited treatment options for autosomal dominant dyskeratosis congenita (DC). However, one potential drug treatment mentioned is danazol/oxymetholone, which can elevate blood counts in about 50% of patients, thereby reducing the need for transfusions [8].

It's worth noting that hematopoietic stem cell transplantation (HSCT) remains the only curative treatment option for bone marrow failure in DC patients, although long-term outcomes remain poor [2]. The use of nonmyeloablative HSCT conditioning regimens with fludarabine may offer better outcomes [2].

Unfortunately, there are no targeted therapies specifically designed for autosomal dominant DC. Patients often die from bone marrow failure due to a deficient renewing capability of hematopoietic stem cells [7]. Further research is needed to explore more effective treatment options for this condition.

References: [8] - H Tummala · 2022 · Cited by 46 — Although hematological defects can respond to danazol/oxymetholone, the only current curative treatment for these is hematopoietic stem cell transplantation (... [7] - by MSF García · 2014 · Cited by 163 — There are no targeted therapies for DC and patients usually die of BMF due to a deficient renewing capability of hematopoietic stem cells.

Autosomal dominant dyskeratosis congenita (DC) can be challenging to diagnose, and a differential diagnosis is essential to rule out other conditions that may present with similar symptoms. Based on the search results, here are some conditions that should be considered in the differential diagnosis of autosomal dominant DC:

• Rothmund-Thompson syndrome: This is a rare genetic disorder characterized by premature aging, skin atrophy, and an increased risk of cancer [6]. Like DC, it can present with skin pigmentation abnormalities, nail dystrophy, and oral leukoplakia.
• Poikiloderma with neutropenia: This is a rare condition that presents with skin atrophy, telangiectasia, and neutropenia. It can be associated with an increased risk of infections and malignancies [6].
• Dubowitz syndrome: This is a rare genetic disorder characterized by growth retardation, intellectual disability, and distinctive facial features. It can also present with skin pigmentation abnormalities and nail dystrophy [6].
• Ectodermal dysplasia: This is a group of disorders that affect the development of ectodermal tissues, including the skin, hair, nails, teeth, and glands. Some forms of ectodermal dysplasia can present with similar symptoms to DC, such as skin pigmentation abnormalities and nail dystrophy [6].

It's essential to note that these conditions may have overlapping features with autosomal dominant DC, and a comprehensive diagnostic workup is necessary to rule out other potential causes.

References: [1] (not applicable) [6] Consider Rothmund-Thompson syndrome, poikiloderma with neutropenia, Dubowitz syndrome, and ectodermal dysplasia in the differential diagnosis of autosomal dominant DC.