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PubMed1997

Familial reticulate acropigmentation of Dohi.

Reticulate acropigmentation (RA) comprises dyschromic disorders that generally have an autosomal dominant pattern of inheritance, Two main forms of RA have been described: reticulate acropigmentation of Kitamura (RAK) and reticulate acropigmentation of Dohi (RAD). We observed a 21-year-old white woman who had progressive reticulate hyper- and hypopigmentation on the volar surface of her forearms and the dorsa of her hands. Many of her relatives have similar lesions. There were no pits or breaks in the epidermal ridge pattern on the palms. A biopsy specimen revealed areas with an excess of melanin in the basal layer alternating with others in which melanin was totally absent, Electron microscopic findings in a hypermelanotic area showed an increased number of melanocytes with high metabolic activity. In the hypomelanotic areas the melanocytes were morphologically abnormal with melanosomes at the early stages of development.

Adult↗
PubMed1987

Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals.

Six individuals with Proteus syndrome have been investigated; 2 were adults and the others ranged in age from 2 to 11 years. They had a wide spectrum of manifestations and severity together with the hitherto unreported anomalies of penile hypertrophy, macro-orchidism, goiter, and failure of breast development. These findings were associated with normal endocrine function. Bizarre digital overgrowth, hemihypertrophy, thickened palms and soles, exostoses of the skull, and multiple hamartomata were common anomalies. Early overgrowth of limbs and digits occurred in several instances but the ultimate stature of 2 adults was normal. Surgical intervention offers cosmetic and orthopedic benefits, but these must be assessed in the light of potential post-operative complications.

Adult↗
PubMed2001

Stem cell transplantation from HLA-matched related donor for Fanconi's anaemia: a retrospective review of the multicentric Italian experience on behalf of AIEOP-GITMO.

Twenty-seven consecutive Italian patients with Fanconi's anaemia (FA) underwent stem cell transplantation (SCT) from an HLA-matched related donor in 10 Italian centres of the Associazione Italiana Ematologia ed Oncologia Pediatrica (AIEOP), Gruppo Italiano di Trapianto di Midollo Osseo (GITMO). Twenty-two patients (81.5%) were conditioned with low-dose (median 20 mg/kg) cyclophosphamide (Cy) and thoraco-abdominal or total body irradiation (median dose 500 cGy), five patients (18.5%) with high-dose Cy (median 120 mg/kg). Graft-vs.-host disease (GVHD) prophylaxis was carried out with cyclosporin A in 26 cases; methotrexate (MTX) was added in eight cases. One patient received MTX alone. The median follow-up was 36 months. Ninety-two percent of patients (25 out of 27) engrafted, grade II and III acute GVHD occurred in 28% and 8% of patients, respectively, with chronic GVHD in 12.5%. Conditioning-related toxicity was mild: 4% of patients had grade III mucositis, 7.4% had grade II haemorrhagic cystitis, 14.8% had grade III liver toxicity and 11.1% had grade III renal toxicity. Transplant-related mortality at 12 months was 19.2%, survival at 36 months was 81.5%, with a median Karnofsky score of 100%. No late tumours occurred after a mean follow-up of the survivors of 5 years. None of the studied variables significantly affected the survival, including conditioning regimen, acute GVHD and clinical non-haematological phenotype. Among the studied variables, only conditioning regimens containing high-dose Cy and the presence of genital abnormalities were significantly (P < 0.05) associated with an increased rate of acute GVHD. Our study demonstrates that the Italian FA patients undergoing SCT from an HLA-matched related donor have a very good outcome. These patients, when compared with others of different ethnic origin who underwent allogeneic bone marrow transplantation, showed a less severe non-haematological phenotype, raising the possibility that this milder phenotype may have, at least in part, contributed to the outcome. Our data may provide a useful tool for further studies aiming to correlate genotype with phenotype.

Adolescent↗
PubMed1979

Syndrome delineation. 1. Malformations and dysplasias.

A practical classification of genetic disorders and birth defects divides them into five categories: malformations, dysplasias, inborn errors of metabolism, deformities, and variant familial developmental patterns. The first two categories are discussed here. The last three will be discussed next month in part 2.

Abnormalities, Drug-Induced↗
PubMed1983

Aberrant melanoblast migration associated with trisomy 18 mosaicism.

A patient is reported with mental retardation, facial and body asymmetry, and hyperpigmented areas limited to the right side of the body. Cytogenetic studies revealed trisomy 18 in 50% of peripheral blood lymphocytes; fibroblast cultures from the hyperpigmented area showed pure trisomy 18, while the karyotype on the unaffected side was normal. This could be an example of the 'lines of Blaschko', considered to be a form of 'human mosaicism', in which an abnormality occurred in melanocytes migrating from the neural crest. Non-disjunction of one chromosome 18 appears to be associated with the mutational event that caused abnormal migration of melanoblasts.

Adolescent↗
PubMed2001

Skin radiation injuries in patients following repeated coronary angioplasty procedures.

This study investigates the incidence of skin injuries and retrospectively estimates skin doses in a sample of patients who had multiple coronary angiographies and who underwent more than four percutaneous transluminal coronary angioplasties (PTCAs), performed primarily by the same team of cardiologists in a university hospital. A database of 7824 PTCAs performed during the last 14 years was analysed. Patients were selected and reviewed by a cardiologist and two radiotherapists with experience in radiation-induced skin injuries. A retrospective analysis of skin doses was performed using data from the patients' files and from the quality assurance (QA) programme of the hospital, which includes periodic patient dose measurements. 14 patients were included in the study. Each patient had undergone between 4 and 14 coronary angiographies and between 5 and 10 PTCAs, performed over a period of 2-10 years. The estimated mean dose-area product per procedure was 46 Gy cm(2) for coronary angiography and 82 Gy cm(2) for PTCA. Mean values of maximum skin dose per procedure were 217 mGy for the diagnostic studies and 391 mGy for the PTCAs. Only a slight radiation skin injury was clinically demonstrated in one patient with a history of 10 coronary angiographies and 10 PTCAs (estimated maximum skin dose 9.5 Gy). Another patient who underwent 14 coronary angiographies and 10 PTCAs (estimated maximum skin dose 7.3 Gy) showed a slight telangiectasia and discrete pigmentation. Another patient with a cutaneous lupus erythematosus showed pigmentation in the area of the radiation field following seven coronary angiographies and six PTCAs (estimated maximum skin dose 5.6 Gy), as expected bearing in mind that skin tolerance to high doses may be altered for patients with this pathology. Each of the remaining 11 patients with no skin injuries had undergone between 5 and 7 PTCAs and between 5 and 14 additional angiographies. None of the 14 patients reported acute skin injuries and no necrosis or radiodermatitis was observed.

Adult↗
PubMed1997

[Hypomelanosis of Ito: autism, segmental dilatation of colon and unusual neuroimaging findings].

INTRODUCTION: Hipomelanosis of Ito (HI) also called Incontinentia pigmenti achromians, is the third most frequent neurocutaneous disorder. The abnormal skin lesions are more evident under Wood's lamp and consist of hypopigmented areas with irregular borders, streaks, whorls or patches which are usually distributed on the trunk or on the limbs. Non-cutaneous abnormalities, particularly of the central nervous system, eye, teeth and skeleton, have been reported in 76-94% of patients. CLINICAL CASES AND CONCLUSIONS: In the present paper, we report two cases of Hipomelanosis of Ito in two female girls with facial coarse features. In the first case the psychomotor development was normal. Segmental dilatation of the colon, precocious pubarchy, abnormal periventricular white matter hipersignal on MRI and nodular mass on left caudate nuclei were also present. In the second case a severe developmental delay and autistic behaviour were the prominent features. To our knowledge, findings described in case 1 were not previously reported in association with HI.

Autistic Disorder↗
PubMed1999

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.

Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by a combination of pigmentary and auditory abnormalities. Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF). MITF plays a critical role in the development of both neural-crest-derived melanocytes and optic cup-derived retinal pigmented epithelium (RPE); the loss of a functional Mitf in mice results in complete absence of all pigment cells, which in turn induces microphthalmia and inner ear deafness. The black-eyed white Mitf mi-bw homozygous mouse normally has a pigmented RPE but lacks melanocytes essential for the pigmentation of the body and hearing. We show here that Mitf mi-bw is caused by an insertion into intron 3 of a 7.2 kb novel L1 element, L1bw, which belongs to an actively retrotransposing TF subfamily. The L1bw insertion reduces the amount of mRNAs for two Mitf isoforms, Mitf-A and Mitf-H, by affecting their overall expression levels and pre-mRNA splicing patterns, while it abolishes mRNA expression of another isoform, Mitf-M, which is specifically expressed in neural-crest-derived melanocytes. The consequence of the L1 insertion in the black-eyed white Mitf mi-bw mouse is that the developmental programme for RPE cells proceeds normally, most likely because of the presence of residual, full-length Mitf-A and Mitf-H proteins, whereas the lack of Mitf-M results in loss of the melanocyte population. The results suggest that melanocyte development depends critically on a single Mitf isoform, Mitf-M, and raise the possibility that specific mutations affecting MITF-M, the human equivalent of Mitf-M, may be responsible for a subset of WS2 conditions.

Alleles↗
PubMed1987

The yellow nail syndrome in an 8-year-old girl.

Yellow nail syndrome is characterized by the triad of abnormally shaped, slow-growing, yellow nails, lymphedema, and chronic respiratory tract disease. Nail changes may precede the other features by several years. The syndrome is most often seen in middle-aged individuals and has not been documented in children under age 11 years. We cared for an 8-year-old girl with this disorder.

Child↗
PubMed1978

Medicinal iron-induced hepatic cirrhosis: reversal by phlebotomy: studies on pathogenesis.

A patient with no underlying hematologic or iron metabolic disorder developed iron induced hepatic cirrhosis as a consequence of long term medicinal iron ingestion. Marked improvement in liver histology followed removal of 28 grams of iron by phlebotomy. Radioautographic studies in rats showed a periportal hepatocyte concentration of radioiron absorbed from the intestine while plasma transferrin was saturated. Based on these and other observations an hypothesis is proposed to explain liver damage in disorders of iron overload.

Aged↗