Dyskeratosis congenita

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Pathophysiology

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Differentiating Dyskeratosis Congenita from other Diseases

Epidemiology and Demographics

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Natural History, Complications and Prognosis

Diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and keywords: Zinsser-Cole-Engman syndrome; X-linked dyskeratosis congenita; Cole-Rauschkolb-Toomey syndrome; DKCX

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Dyskeratosis Congenita from other Diseases

=Epidemiology and Demographics

Natural history, Complications and Prognosis

Complications include:

Prognosis of the disease is poor with a mean survival of 30 years. Prognosis is worse for X-linked and autosomal recessive forms compared to autosomal dominant form.

Diagnosis

Symptoms

Patients with DKC complain of

Physical Examination

The triad of reticulated hyperpigmentation of the skin, nail dystrophy, and leukoplakia characterizes DKC. The syndrome is clinically heterogeneous; in addition to the diagnostic mucocutaneous features and bone marrow failure, affected individuals can have a variety of other clinical features.

Skin:

  • Abnormal skin pigmentation - tan to gray hyperpigmented or hypopigmented macules and patches in a mottled or reticulated pattern. Reticulated pigmentation occurs in approximately 90% of patients.
  • Poikilodermatous changes with atrophy and telangiectasia are common.
  • Alopecia of the scalp, eyebrows, and eyelashes
  • Premature graying of the hair
  • Hyperhidrosis
  • Hyperkeratosis of the palms and soles
  • Adermatoglyphia (loss of dermal ridges on fingers and toes).

The cutaneous presentation may clinically and histologically resemble graft versus host disease. The typical distribution involves the sun-exposed areas, including the upper trunk, neck, and face.

Extremities:

  • Nail dystrophy (ridging and longitudinal splitting) - seen in approximately 90% of patients, with fingernail involvement often preceding toenail involvement.
  • Absent nails - in advanced disease.

Mucosal findings:

  • Mucosal leukoplakia - occurs in approximately 80% of patients and typically involves the buccal mucosa, tongue, and oropharynx.

Patients also may have an increased prevalence and severity of periodontal disease. Other mucosal sites may be involved (e.g., esophagus, urethral meatus, glans penis, lacrimal duct, conjunctiva, vagina, anus).

Respiratory:

Neurologic:

Eye:

Abdomen:

Genitourinary system findings::

Female carriers:

Female carries of DKC may have subtle clinical features. One study showed that 3 of 20 female carriers had clinical features that included a single dystrophic nail, a patch of hypopigmentation, or mild leukoplakia.

Lab tests

X-ray

Treatment

Recent research has used induced pluripotent stem cells to study the disease mechanisms in humans, and discovered that the repgrogramming of somatic cells restores telomere elongation in dyskeratosis congenita cells despite the genetic lesions that affect telomerase. The reprogrammed DC cells were able to overcome a critical limitation in TERC (Telomerase RNA component) levels and restored function (telomere maintenance and self-renewal). Therapeutically, methods aimed at increasing TERC expression could prove beneficial in DC patients. [1]

References

  1. Agarwal; et al. (2010). ": Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients". Nature. 464: 292–296. doi:10.1038/nature08792. PMID 20164838.

External links

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