Reticulate hyperpigmentation.

Disorders that are characterized by a reticulate pattern of pigmentation are reviewed. Dyskeratosis congenita (DKC) is the prototype of these. In addition to reticulate hyperpigmentation, mucosal leukoplakia, bone marrow dysfunction, cytogenetic instability, and a predisposition to malignancy are characteristic of DKC. The most common pattern of inheritance is X-linked, with heterozygous females showing variable expression, most likely depending on tissue-specific patterns of random X-inactivation. Other reticulate pigmentary disorders reviewed include the Naegeli-Franceschetti-Jadassohn syndrome, X-linked reticulate pigmentary disorder, dermatopathia pigmentosa reticularis, Dowling-Degos disease, dyschromatosis, confluent and reticulated papillomatosis of Gougerot and Carteaud, reticulate acropigmentation of Kitamura, and Revescz syndrome. Diagnosis, treatment, and sometimes genetic counseling remain problematic for these entities. The pathophysiology of these disorders is unknown, but will certainly be aided greatly by the future identification of the underlying genes.

Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation.

Chronic restrictive lung disease in a 9-year-old boy with dyskeratosis congenita (DC) 7 years after allogeneic bone marrow transplantation (BMT) is described. When he was 1 year and 10 months old, severe aplastic anemia developed. He received a marrow transplant from his HLA serologically identical, but HLA-DP mismatched brother. He developed grade II acute graft-versus-host disease (GVHD) and thereafter chronic GVHD of progressive type, and was treated with both prednisolone and azathioprine resulting in clinical improvement. Thereafter he complained of dyspnea, and bilateral noncircumscribed interstitial shadows on chest CT scan were present. His pulmonary function showed restrictive changes. Prednisolone was not effective and he died of respiratory failure. Post-mortem examination confirmed interstitial fibrosis, lymphocytic infiltration of the bronchioles and alveoli with luminal fibrosis. There was no evidence of chronic GVHD in the skin and the liver. These findings raise the possibility that this pulmonary complication was associated with DC itself.

Gastrointestinal problems in a child with dyskeratosis congenita.

We describe a pediatric patient with dyskeratosis congenita, whose symptoms included abdominal pain, vomiting, dysphagia, and hematochezia. Gastrointestinal symptom are prominent in this rare genetic disorder.

Dyskeratosis congenita.

Dyskeratosis congenita is a rare genodermatosis. Malignant deterioration and hematologic complications are well-described features of this syndrome. Correct recognition is essential for proper management. A review of diagnostic considerations and treatment guidelines is presented.

Oral-dental findings in dyskeratosis congenita.

A 13-yr-old girl with dyskeratosis congenita is presented. Besides oral leukoplakia and nail dystrophies, there was evidence of pancytopenia, growth retardation, alopecia, mental retardation and microcephaly. The oral findings included caries, gingival recession, short-blunted roots, gingival bleeding, tooth mobility and severe alveolar bone loss resembling juvenile periodontitis.

Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus.

An 11-year-old boy had dyskeratosis congenita, elevated fetal hemoglobin level, X-linked ocular albinism, and juvenile-onset diabetes mellitus. A review of the international literature revealed that elevated fetal hemoglobin has been noted in 15 reported cases of dyskeratosis congenita. It is a previously unrecognized, commonly associated finding in dyskeratosis congenita that may provide insight into the location and function of the gene for dyskeratosis congenita.

Congenital keratinizing desquamative squamous epithelium of the entire urinary tract.

We report the clinical and pathological findings of a case of congenital desquamative squamous epithelium of the entire urinary tract associated with body dysmorphism. This entity has not been described previously in the literature.

Dyskeratosis congenita (Zinsser-Cole-Engman syndrome). An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia.

A 24-year-old Japanese man presented with dyskeratosis congenita (DC, Zinsser-Cole-Engman syndrome) complicated by non-cirrhotic portal hypertension, signet ring carcinoma of the rectum and Pneumocystis carinii pneumonia. At the age of 9 years, he was diagnosed as having DC on the basis of typical clinical manifestations including atrophic lingual papillae, hyperpigmentation of the skin, thrombocytopenia, and ophthalmological abnormalities. A few years later pancytopenia and splenomegaly developed. At 24 years, signet ring carcinoma of the rectum was detected but could not be resected because of the severity of the pancytopenia. Death was due to respiratory failure from P. carinii pneumonia. At autopsy the case illustrated several unique findings for DC, including non-cirrhotic portal hypertension, atrophy of frontal lobe and markedly slender folia of the cerebellum and superimposed infections with herpes zoster virus and P. carinii. Striking lymphocyte depletion and atrophy of lymphoid parenchyma in lymph nodes, tonsils, spleen, gastrointestinal tract, or thymus were seen histologically. The morphological picture supports the suggestion that there is a defect in the cell-mediated immune system in patients with DC, although immunoglobulin levels in the blood are normal. The cell-immune deficiency is a major factor in the poor prognosis.

Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature.

Dyskeratosis congenita is a rare genodermatosis whose hematologic complications include pancytopenia of variable time of onset, a propensity for opportunistic infections, and neoplasia. A family in which the disorder segregated in 3 generations and involved 9 members is reported, and the hematologic data of the 46 previously reported cases are reviewed.