journal cover

A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck

International Journal of Dermatology

Apr 2, 2008

Seray Külcü CakmakMurat Demiriz

Abstract

Dyskeratosis congenita (DC) is a rare inherited disorder that is usually seen in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy, and skin pigmentation. We present a case of DC associated with esophageal stricture, Chiari 1 malformation, absence of ...read more

Mentioned in this Paper

Transverse Tubule of Muscle Cell
Leukoplakia, Oral
Hernia of Cerebellar Tonsil into Foramen Magnum
Leukokeratosis
Esophagoscopy
Magnetic Resonance Imaging
Congenital Cerebral Hernia
Triad Acrylic Resin
Downy Hair
X-Ray Computed Tomography
1
8
Paper Details
References
  • References7
  • Citations1
1
  • References7
  • Citations1
1

Similar Papers Found In These Feeds

Hereditary Cancer Syndromes

Hereditary cancer syndromes comprise 5% of all cancers and have an increased risk of early onset and of multiple or bilateral malignancies. Here is the latest research on hereditary cancer syndromes.

Telomere Dysfunction

Telomere dysfunction in response to critical telomere shortening induces dna damage checkpoints that lead to cell cycle arrest and/or cell death.

Head & Neck Squamous Cell Carcinoma

Head and neck squamous cell carcinoma (HNSCC) is a malignancy arising in the epithelia of the nasal cavity, pharynx, oral cavity, throat, larynx, or associated structures. Find the latest research on HNSCC here.

Related Papers

The British Journal of Dermatology

Measuring the activity of the disease in patients with cutaneous lupus erythematosus

The British Journal of DermatologyMarch 29, 2000
A ParodiA Rebora
Pediatric Dermatology

Rothmund-Thomson syndrome with myelodysplasia

Pediatric DermatologyJuly 5, 2001
S NarayanJ A Craig
© 2020 Meta ULC. All rights reserved

A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck

International Journal of Dermatology

Apr 2, 2008

Seray Külcü CakmakMurat Demiriz

PMID: 18377603

DOI: 10.1111/j.1365-4632.2008.03525.x

Abstract

Dyskeratosis congenita (DC) is a rare inherited disorder that is usually seen in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy, and skin pigmentation. We present a case of DC associated with esophageal stricture, Chiari 1 malformation, absence of ...read more

Mentioned in this Paper

Transverse Tubule of Muscle Cell
Leukoplakia, Oral
Hernia of Cerebellar Tonsil into Foramen Magnum
Leukokeratosis
Esophagoscopy
Magnetic Resonance Imaging
Congenital Cerebral Hernia
Triad Acrylic Resin
Downy Hair
X-Ray Computed Tomography
1
8

Similar Papers Found In These Feeds

Hereditary Cancer Syndromes

Hereditary cancer syndromes comprise 5% of all cancers and have an increased risk of early onset and of multiple or bilateral malignancies. Here is the latest research on hereditary cancer syndromes.

Telomere Dysfunction

Telomere dysfunction in response to critical telomere shortening induces dna damage checkpoints that lead to cell cycle arrest and/or cell death.

Related Papers

The British Journal of Dermatology

Measuring the activity of the disease in patients with cutaneous lupus erythematosus

The British Journal of DermatologyMarch 29, 2000
A ParodiA Rebora
Pediatric Dermatology

Rothmund-Thomson syndrome with myelodysplasia

Pediatric DermatologyJuly 5, 2001
S NarayanJ A Craig
Paper Details
References
  • References7
  • Citations1
1
  • References7
  • Citations1
1
/papers/a-case-of-dyskeratosis-congenita-with-chiari-1/18377603