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We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.     

Ectopic pregnancy after a laparoscopically-assisted vaginal hysterectomy

PURPOSE/METHODS: Rubinstein-Taybi syndrome is a constellation of clinical findings characterized by mental and motor retardation, broad thumbs and broad first toes, marked growth retardation, microcrania, typical facies, high-arched palate, and cryptorchidism in males. Ocular and adnexal abnormalities are quite common and include antimongoloid slant of the palpebral fissures, epicanthal folds, congenital obstruction of the lacrimal excretory system, ptosis, strabismus, and severe ametropia. Macrocornea, microophthalmos, colobomas of the iris and of the optic nerve head, congenital cataract, and optic nerve atrophy have also been described. Congenital glaucoma is a rare complication. We examined a patient with Rubinstein-Taybi syndrome with bilateral congenital glaucoma. RESULTS/CONCLUSIONS: Examination of this patient revealed bilateral antimongoloid slants of the palpebral fissures, and bilateral congenital glaucoma. Gonioscopic examination revealed the iris to be inserted flatly into the trabecular meshwork. This case emphasizes the importance of detailed, complete ocular examinations in patients with Rubinstein-Taybi syndrome, and also highlights the occurrence of ocular abnormalities rarely associated with this disease.     

Commentary on magnesium deficiency, substance P receptor up-regulation and NO overproduction

The authors described symptoms of Rubinstein-Taybi syndrome and presented a treatment of this disease. It concerned a 1-year-old baby with obstruction of left lacrimal ducts, psychomotor retardation and facial abnormalities.     

Chronic edema, monoclonal dysglobulinemia and profuse telangiectasia: a distinct entity?

INTRODUCTION: Monoclonal gammopathy and edema are features encountered during several diseases, especially systemic capillary leak syndrome. The diagnoses of POEMS syndrome, edematous systemic scleroderma and a fortuitous association may be also discussed. We report the cases of two patients which did not fulfill the criteria for such diagnoses. CASE REPORT: Although the 2 cases share some discrepancies, they have also similar and particular features: association of chronic edema, monoclonal gammopathy and profuse and acquired telangiectasias. DISCUSSION: The meaning of these cases remains to be clarified. It might be an entity close to the systemic capillary leak syndrome but characterized by the chronicity of edema and by a distinct cutaneous sign, the occurrence of numerous telangiectasias. These cases emphasize that the acquired and profuse telangiectasias belong to the wide range of cutaneous abnormalities which may be associated with monoclonal paraproteinemia.     

Anti-Ro(SS-A) HLA-DR3-positive women: the interrelationship between some ANA negative, SS, SCLE, and NLE mothers and SS/LE overlap female patients

During the past 15 years, the clinical spectrum associated with the anti-Ro(SS-A) antibody response has been defined. Various clinical presentations, including subacute cutaneous lupus erythematosus, the neonatal lupus syndrome, the Sj?gren's syndrome/lupus erythematous overlap syndrome, and primary Sj?gren's syndrome, have been detected in association with the anti-Ro(SS-A) response. The anti-Ro(SS-A) antibody response is associated with the HLA-DR2 and HLA-DR3 phenotypes. There is now a good deal of evidence to suggest that many anti-Ro(SS-A)-positive HLA-DR3 women are genetically closely related, sharing in common an enriched frequency of the HLA-DR3-linked B8, DQw2, and DRW52 phenotypes. DNA sequence studies have confirmed this genetic relationship. These studies have led us to the following conclusions. 1) The HLA-DR2 and HLA-DR3 associations with systemic lupus erythematosus and the HLA-DR3 association with Sj?gren's syndrome are related to the anti-Ro(SS-A) antibody response and not to the clinical disease expression. 2) HLA-DR3 anti Ro-positive female patients with first-degree Sj?gren's syndrome, subacute cutaneous lupus erythematosus, or Sj?gren's syndrome, or who are asymptomatic, are immunogenetically closely related even though the clinical presentations are strikingly different. All these HLA-DR3 anti-Ro(SS-A) antibody-positive women are at risk to give birth to a child with the neonatal lupus syndrome.     

General anesthesia for an infant with Rubinstein-Taybi syndrome

A 5-year-old girl with Rubinstein-Taybi syndrome (RTS) was scheduled for ophthalmic surgery under general anesthesia. RTS is a well-defined syndrome with facial abnormalities including a high palate and micrognathia, broad thumbs and big toes, and mental retardation as main clinical features, which may be complicated with repeated respiratory infections, cardiac anomalies, and so on. Anesthesia was uneventfully induced and maintained with the inhalation of oxygen, nitrous oxide and sevoflurane. Special attention was paid to the possibilities of the difficult airway, aspiration pneumonia and cardiovascular dysfunction during anesthesia. No complications were observed throughout the perioperative procedures.     

Prenatal diagnosis of fetal herpes simplex infection

The Rothmund-Thomson syndrome (RTS), also called poikiloderma congenitale is a rare autosomal recessive disease first described in 1868. This syndrome includes most frequently seen skin lesions (atrophy, telangiectases, pigmentation), cataracts and bone defects (dysostosis, dysplasia). Some authors describe an association with malignancy. We report three cases of Rothmund-Thomson syndrome associated with osteosarcoma. After cutaneous epithelioma, osteosarcoma is the most frequent malignancy. Thus, patients with RTS need a careful survey. The treatment did not differ from sporadic osteosarcoma. Chemosensitivity and toxicity are also not different.     

True synovial metaplasia of breast implant capsules: a light and electron microscopic study

High resolution chromosome analysis, molecular cytogenetics, and study of the association between specific chromosome rearrangements and single gene disorders have provided a chromosomal basis to a number of mendelian diseases. Deletions and duplications of small regions, usually less than 3 Mb in size, result in an alteration of normal gene dosage of a number of unrelated genes physically close to each other and are responsible for contiguous gene syndromes. For example, haploinsufficiency is implicated for del 8q24.1 in Langer-Giedion syndrome, del 17p13.3 in Miller-Dieker syndrome, and del 22q11.2 in DiGeorge and Velo-cardiofacial syndromes. Another chromosomal mechanism causing mendelian phenotypes is translocation, which may eventually interrupt a disease gene. It is assumed that translocation breakpoints are running through a relevant gene, hindering the production of the gene product. An example is breakage 16p13.3 associated with Rubinstein-Taybi syndrome. Females with X/autosome translocations have an almost exclusive inactivation of the normal X. Interruption of a disease gene in the translocated X causes the expression of a mendelian phenotype in the presence of an allelic recessive mutation onto the nonrearranged X. Finally, if a human gene shows exclusive expression from a single parental homologue, ie, it is imprinted, deletion of the chromosomal segment containing the active allele results in structural monosomy and functional nullisomy. This situation is illustrated by Prader-Willi and Angelman syndromes. Over seventy human genes have been precisely assigned to chromosomal regions using a cytogenetic approach. Chromosome techniques combined with molecular methods have proved to have powerful and sensitive diagnostic capabilities.     

Combined naevus flammeus and naevus fuscocoeruleus: phacomatosis pigmentovascularis type IIa]

The association of nevus flammeus with mongolian spot, nevus fuscoceruleus, nevus spilus and, with variable frequency, with nevus anemicus has been termed phacomatosis pigmentovascularis, a genodermatosis first described by Ota and co-workers. Four different combinations have been specified. Most cases are reported from the Japanese literature. Phacomatosis pigmentovascularis may constitute an exclusively cutaneous disorder, but overlapping with other syndromes like Klippel-Trenaunay syndrome or Sturge-Weber syndrome is also possible. We report a 30-year-old woman with nevus flammeus on the back and right arm associated with nevus fuscoceruleus on the back.     

A case of early intrauterine parvovirus B19 infection

Cutaneous and subcutaneous gangrene are serious sequelae of secondary or tertiary hyperparathyroidism which may accompany chronic renal failure. Based on analysis of the present typical case and a retrospective survey of similar cases in the literature, we propose the term 'uraemic gangrene syndrome' for this association. These skin lesions in chronic renal failure patients represent the most serious clinical manifestation of calciphylaxis, a condition originally described by Selye. The appearance of early skin lesions should be regarded as an indication for subtotal parathyroidectomy. The association of cutaneous gangrene with vascular calcification was first described by Bryandt and White in 1989, and was termed by these authors as 'gangrenous calcification'. A total of 80 cases of this rare complication of chronic renal disease had been reported up to early 1994. A retrospective review of these reports has strongly suggested a close interrelationship between renal failure, secondary hyperparathyroidism, vascular calcification and cutaneous gangrene. The present report concerns a characteristic case to draw attention to this syndrome which is accompanied by serious, predominantly cutaneous, changes.     

Arteriovenous fistula. Cutaneous manifestations

The association between congenital large-vessel arteriovenous (AV) fistulae of the extremities with Kaposiform acroangiomatosis is well established. Based on pathogenetic considerations, it is likely that many benign, cutaneous angiomatoses represent minute or microscopic AV fistulae. Combined large vessel and small vessel congenital AV fistulae of the extremity would result in the previously mentioned syndrome.     

Hereditary neurocutaneous angiomatosis. Report of four cases

The authors report the coexistence of vascular nevi (hemangiomas and arteriovenous malformations (AVMs) of the skin) with AVMs and venous malformations of the brain in male siblings from two related but nonconsanguineous families of three generations. The proband, his siblings, parents, aunts, uncles, and cousins were examined, underwent magnetic resonance (MR) imaging and MR angiography, and when appropriate, cerebral angiography. A father had vascular nevi and a mother, his sister, had an azygos anterior cerebral artery. No other cutaneous or cerebrovascular malformations were present in the parents. Each of the two families had two boys and one girl, 9 to 18 years of age. All the children had vascular nevi and all of the boys had coexisting cerebrovascular malformations: AVMs in three, and a venous malformation in another. One boy had three cerebral AVMs. Two boys had a cerebral hemorrhage, and one also had focal motor seizures. The skin lesions were not those of the Sturge-Weber-Dimitri, Rendu-Osler-Weber, or Wybum-Mason syndromes. The association of cutaneous and cerebrovascular malformations was seen only in males in these families. but females have also been reported in the literature. The results obtained in these families and three other families reported from Western and Central Europe indicate that the association of cerebral and cutaneous vascular hamartomas constitutes a distinct, hereditary clinicopathological entity with autosomal dominant inheritance and variable penetrance. The clinical manifestations of this syndrome are visible, painful vascular nevi, epilepsy, cerebral hemorrhage, and focal neurological deficits. The preponderance of male patients with the full expression of the syndrome suggests a possible hormonal influence on the expression of the gene.     

An international evaluation of the cancer-preventive potential of nonsteroidal anti-inflammatory drugs

The most common complication in children with varicella is cutaneous superimposed infection with pyogenic bacteria. Group A beta-hemolytic streptococci, which are known to cause life-threatening infections in both previously healthy children and those with underlying diseases, are the most frequently associated pathogens. A newly recognized disease, called streptococcal toxic shock syndrome, is associated with severe morbidity and mortality. We report a 3-year-old boy with a diagnosis of this syndrome who presented with increasing fever, vomiting, and lethargy 7 days after the development of a classic varicella skin lesion. In spite of aggressive fluid supply, administration of inotropic agents, and cardiopulmonary resuscitation, a rapidly deteriorating clinical course led to death 4 hours after hospitalization. This is the first report of this association in Taiwan. Pediatricians evaluating children with varicella must be mindful of the potential for Group A beta-hemolytic streptococcal infection.     

Kindler syndrome: a rare cause of desquamative lesions of the gingiva

Kindler syndrome is a rare syndrome with cutaneous and intraoral manifestations. It has been suggested that there is an overlap between this syndrome and another called Weary syndrome. Only 68 cases of Weary and Kindler syndromes have been reported, with fewer solely attributed to Kindler syndrome. The salient cutaneous features are neonatal bullae, poikiloderma, photosensitivity, and acral atrophy. This article presents the clinical intraoral findings of two siblings of consanguineous descent diagnosed as having Kindler syndrome. Both had an erythematous and erosive appearance of the gingiva; one sibling had poor oral hygiene and a rapidly progressive form of periodontal disease; the other, whose oral hygiene was acceptable, had no detectable bone loss.     

Variability of the clinical picture and the classification of progressive systemic scleroderma

Fiftythree patients with progressive systemic sclerosis were studied. Four of them (3 males) had the diffuse form of the disease. The skin manifestation of this clinical picture is characterized by diffuse progression of the cutaneous sclerosis over almost the whole body surface, except for the hands where it eventually may appear late. The prognosis for these patients it especially poor. Fortyfive patients (44 females) had acrosclerosis in the widest sence. Twentyseven of these ("acrosclerosis stricto sensu") had cutaneous sclerosis of the hands, face, and often other parts of the body, but not on the abdomen, arms or thighs. The remaining 18 patients had sclerotic alterations on these surfaces also. In this syndrome (which the authors call "the intermediary syndrome"), i.e. where the abdomen, arms, and thighs also are affected, certain internal organs and the joints are more involved than in "acrosclerosis stricto sensu". With rare exceptions, a symptomatic tetrade (REST-syndrome) occurred in acrosclerosis and all the intermediary syndromes. This consisted of Raynaud's syndrome (R), esophagopathy (E), cutaneous sclerosis (S), and telangectasia (T). Fifty % of the patients in addition had calcinosis (C), either subcutaneous or para-articular. The tetrade "REST syndrome" becomes in these cases the pentade "CREST syndrome". The addition of calcinosis to the other four phenomena of the REST syndrome does not alter the frequency of internal organ involvement or the prognosis of the disease. The term "REST syndrome" and its variant "CREST syndrome" should replace the conservative term "acrosclerosis" because they add to the purely cutaneous phenomena other characteristic manifestations of the disease. Two patients could neither be classified under the REST syndrome nor the progressive diffuse syndromes. Two other patients had no cutaneous phenomena ("scleroderma sine scleroderma").     

Multiple cutaneous cylindromas associated with parotid and submandibular gland cylindromas

BACKGROUND: Multiple cutaneous cylindromas are uncommonly associated with extracutaneous cylindromas. An association between cutaneous cylindromas and salivary gland cylindromas would probably not be fortuitous. CASE REPORT: A 66-year-old man developed multiple cutaneous cylindromas and cylindromas situated in the parotid and submaxillary gland. Histology was similar for both localizations. DISCUSSION: This association was probably not fortuitous as the histology was similar, other cases have been reported in the literature, and recent complaint concerned the development of multiple cutaneous cylindromas and salivary gland cylindromas. Salivary gland cylindromas should be searched for in patients who develop cutaneous cylindromas as they are more aggressive in nature.     

Retinoic acid and its receptors

We report on a patient presenting with cutaneous leucocytoclastic vasculitis in association with sarcoidosis. Detailed investigations did not show evidence of infectious or neoplastic diseases. Vasculitis was therefore considered to be secondary to sarcoidosis. A review of 4 other previously reported cases reveals a common presentation with the association of vasculitic skin lesions with deep cutaneous nodules, mediastinal lymph nodes and arthritis. The role of antibody response in leucocytoclastic vasculitis is discussed.     

Myelodysplasia, vasculitis and anti-neutrophil cytoplasm antibodies

A cutaneous or systemic vasculitis occurs in myelodysplasia as well as in myeloproliferative and lymphoproliferative disorders. The most common lesion is a leucocytoclastic vasculitis, with neurological or joint involvement occurring less often. The vasculitis may appear contemporaneously with or precede the clinical onset of the blood dyscrasia. Occasionally the lesions respond dramatically to the use of steroids but in general, patients with vasculitis have a worse prognosis than those with uncomplicated myelodysplasia. Vasculitis and myelodysplasia appear together too often for the association to be coincidental and the vasculitis in most cases cannot be attributed to intercurrent infections, therapeutic agents or a pre-existing rheumatological disorder. While autoantibodies are frequently present in myelodysplasia, and ANA and anti-neutrophil cytoplasm antibodies (ANCA) are found in other vasculitides, neither of these antibodies is associated with the vasculitis of myelodysplasia. There has however been one report of ANCA in Sweet's syndrome a non-vasculitic skin condition that also occurs in the myelodysplastic syndromes.