Nevoid basal cell carcinoma syndrome: our experience in a pediatric hospital.

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in 3 patients (50%), and odontogenic keratocysts in 1 patient (17%). We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team.

Perianal ulcers on a segmental hemangioma with minimal or arrested growth.

Hemangiomas with minimal or arrested growth are a type of infantile hemangioma in which the proliferative component characteristic of such lesions is not observed or accounts for less than 25% of the surface area of the hemangioma. For this reason, these lesions are frequently confused with capillary vascular malformations or may even go undetected. Awareness of these lesions is, however, important because they can become ulcerated, as occurs with typical infantile hemangiomas. A proper diagnosis is therefore important to enable administration of appropriate treatment. We present the case of a 3-month-old girl with slowly progressing perianal ulcers first detected when she was 20 days old. She had received many different therapies without any response. A pathology study of the ulcer showed a GLUT-1-positive infantile hemangioma. Response to treatment with propranolol 2mg/kg/d and local wound care was excellent.

[Paraneoplastic pemphigus or paraneoplastic autoimmune multiorgan syndrome. Report of 2 cases in children and a review of the literature]. / Pénfigo paraneoplásico/síndrome multiorgánico autoinmune paraneoplásico. Presentación de dos casos en la edad infantil. Revisión de la literatura.

Paraneoplastic pemphigus is an autoimmune blistering disease associated with an occult or previously diagnosed tumor. Its clinical, histological, and immunological features have been clearly defined. It is characterized by the presence of polymorphic skin lesions and by erosions of the oral and genital mucosas that are refractory to conventional treatments. The histology can be variable and includes acantholysis or lichenoid dermatitis. Circulating autoantibodies are a constant feature and confirm the diagnosis. We describe 2 girls with paraneoplastic pemphigus associated with Hodgkin lymphoma in one and Castelman disease in the other. Both children had oral and genital lesions that did not respond to conventional treatments. Biopsy revealed acantholysis in one and a lichenoid reaction in the other, and immunoassays confirmed the diagnosis. Chemotherapeutic treatment of the underlying disease was performed in both cases, together with high-dose corticosteroids for the skin and mucosal lesions. Both patients died due to respiratory failure. We suggest that paraneoplastic pemphigus, although rare in childhood and adolescence, should be included in the differential diagnosis of periorificial erosive dermatitis; this may assist in the detection of an occult neoplasm.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the Macrocephaly-Cutis Marmorata Telangiectatica Congenita syndrome (M-CMTC--MIM 602501). This syndrome has recently been delineated within the general group of patients with Cutis Marmorata Telangiectatica (CMTC) as a distinct and easily recognisable entity. In contrast to most children with CMTC, patients with M-CMTC syndrome have a high risk of neurological abnormalities, such as hydrocephalus, megalencephaly, developmental delay and mental retardation. An MRI scan showed structural cerebral abnormalities in all of our patients, including megalencephaly, asymmetry of the cerebral hemispheres and abnormally increased signal of white matter. Seven patients also had Chiari type I malformation. Reviewing all reported cases, we propose appropriate surveillance for known complications.

Lip pits and deletion 1q32----41.

A patient with an interstitial deletion of chromosome 1q[del(1q32----41)] was found to have, among other anomalies, congenital lower-lip pits. Lip pits are rare and are found mainly in association with the van der Woude syndrome and the popliteal pterygium syndrome; we cannot find a report of their association with a chromosome anomaly. To our knowledge, interstitial deletion of the segment 1q32----41 has not been reported. This observation raises the possibility that the van der Woude syndrome may be due to a submicroscopic deletion of chromosome 1q.

Partial duplication 8q12----q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8.

We report on two sibs with duplication of the segment 8q12----8q21.2 resulting from malsegregation of a maternal insertional translocation: [inv ins (5;8)(p13;q12q21.2)]. The mother also carries a reciprocal translocation [t(1;6)(q31;q5)], which was transmitted in the balanced state to the propositi and to a phenotypically normal son and daughter. The literature on two translocations occurring in one individual and on insertional rearrangements is reviewed in terms of reproductive risks to balanced carriers. The two affected infants have a previously undescribed partial duplication of an interstitial segment of 8q and a pattern of abnormalities distinct from those seen in other partial duplications of 8. These infants are reviewed with 78 other cases of partial duplications of chromosome 8 with regard to phenotype-karyotype correlations.

Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.

Interstitial deletions of 3q have, to our knowledge, been reported in only four patients. We present an additional patient with interstitial deletion of 3q, with breakpoints at 3q23 and 3q25. The patient was small for gestational age and had a multiple congenital anomalies (MCA) syndrome including microcephaly; unusual facial appearance with bilateral microphthalmia, blepharophimosis, and ptosis; ventricular septal defect; and bilateral clubfeet. Comparison between the clinical and cytogenetic findings of the present case and those of previously reported cases suggests that a recognizable phenotype may be associated with deletions of 3q2.

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.

To further delineate and classify those forms of short trunk dwarfism characterized by multiple vertebral segmentation defects, we analyzed 26 new patients and reviewed 115 described in the literature. Three distinct entities were recognized based on radiographic and clinical findings. Jarcho-Levin syndrome is the lethal autosomal recessive form, characterized by a symmetric crab-like chest. Spondylocostal dysostosis is the benign autosomal dominant condition. Spondylothoracic dysostosis shows considerable clinical and radiographic overlap with spondylocostal dysostosis. Malformations observed in association with multiple vertebral segmentation defects are more common in the sporadic patients. Analysis of the 26 new individuals revealed that the body segment in which these nonvertebral malformations occur corresponds to the site of the vertebral segmentation defects.

Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma.

We report on a 7-year-old boy with mosaic variegated aneuploidy (MVA) who developed embryonal rhabdomyosarcoma of the soft palate. This patient is the 11th case report of MVA and represents further documentation of the true existence of this rare mitotic mutant. Clinical findings share similarities to those previously described patients including microcephaly and growth retardation as the two most common abnormalities. Notably, mental retardation is not universally present. Results of serial cytogenetic analyses performed on somatic and neoplastic tissues are reviewed and compared with those of other previously reported patients. We postulate that mosaic variegated aneuploidy is causally related to the development of rhabdomyosarcoma in our patient. This is the first report of a patient with MVA who developed cancer and suggests that these patients may be at risk for malignancy and require long-term follow-up and cancer surveillance.

Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13.

We have identified a one megabase deletion in the 15q22-15q23 region in a patient with autism, developmental delay, and mild dysmorphism. Genes that map within the deletion region and genes that are interrupted or rearranged at the deletion breakpoints are candidate genes for autism. Fluroescence in situ hybridization studies in this patient revealed that part or all of the PML gene is absent from one chromosome 15 and a BAC clone containing the D15S124 gene locus hybridizes to only one chromosome 15. BAC clones containing the PTPN9, and SLP-1[hUNC24] genes showed markedly reduced hybridization in the 15q22-q23 region on one chromosome 15 in the patient. These BACs also hybridize to the 15q11-q13 region in close proximity to SNRPN and HERC2, and in this region there is equal intensity of signal on the normal and on the deleted chromosome. There are previous reports of deletions and duplications of the 15q11-q13 region in patients with autism. Our patient represents the first report of a 15q22-q23 deletion. Hybridization of the PTPN9 and Slp-1 Bac clones to the 15q11-q13 and the 15q22-q23 regions of chromosome 15 may be due to the presence of PTPN9 or SLP-1 gene sequences or to the presence of other gene sequences or to non-coding homologous DNA sequences. The PTPN9 gene encodes a non-receptor protein tyrosine phosphatase. The Slp-1 [hUNC24] gene is expressed mainly in the brain. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:765-770, 2000.

Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization.

Fluorescent in situ hybridization (FISH) identified a cryptic balanced reciprocal translocation in the mother of an infant with the cri-duchat syndrome. A biotinylated probe from a flow-sorted chromosome 5 cosmid library was used to show the distal deletion of 5p15.2 in the propositus and a translocation of this segment to the distal end of 7 at 7p21 in his mother. In a subsequent pregnancy, the fetus was shown to have normal chromosomes using the same 5 cosmid library probe and a locus-specific probe derived from the 5p15.3 region. The importance of incorporating FISH into the routine diagnostic laboratory is discussed.

Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk.

We reviewed 225 cases of amyoplasia, and the association of amyoplasia with gastroschisis and with monozygotic twinning was confirmed. In addition, an apparently increased association of bowel atresia and defects in the muscular layer of the trunk wall with amyoplasia was observed. The association of amyoplasia, monozygotic twinning, and these trunk wall defects strongly suggests that the pathogenesis of amyoplasia is linked to some type of vascular compromise.

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II. Clinical, radiographic, genetic, and histologic data are presented which demonstrate differences between our patients and previously reported cases of these other conditions. We conclude that the disorder seen in these children represents a distinct chondrodysplasia for which we propose the name atelosteogenesis Type III.

Atypical biochemical findings in Turner's syndrome: identification of a possible subset.

Two patients with Turner's syndrome, Hashimoto's thyroiditis, and partial intrasellar arachnoidocele (empty sella) are described. Both patients had low basal and LH-RH-stimulated gonadotropin release and moderately exaggerated TSH and PRL response to insulin-induced hypoglycemia and TRH. Such findings are typical of a disturbance of the hypothalamic-pituitary axis. In our patients, these findings could be due to the presence of the intrasellar arachnoidocele or might represent a loss of the central dopaminergic tone possibly as the consequence of an autoimmune process. It remains to be established whether the frequency of intrasellar arachnoidocele and Hashimoto's thyroiditis in patients with Turner's syndrome justifies classification of the condition of these patients as a distinct subtype.

Recent cytogenetic advances and implications for pediatric practice.

We have attempted to present the significant advances made in the area of human cytogenetics in recent years and to outline the new methods of analysis which made these advances possible. Rapid advancement can be expected to continue as these techniques are put to greater use both in clinical practice and in the research laboratory.

Influence of rearing system, diet and gender on performance, carcass traits and meat quality of Polish Landrace pigs.

Forty-eight Polish Landrace pigs (initially 32.43 ± 0.70 kg live weight) were assigned to a 2 × 2 × 2 factorial arrangement in order to assess the effects of the rearing system (outdoor v. indoor), diet (with corn grain silage v. without corn grain silage) and gender (barrows v. gilts) on performance, carcass traits, meat quality and intramuscular collagen (IMC) characteristics. During the trial period of 14 weeks, each group was housed in a pen of 12 m2, and the outdoor-reared animals had access to a paddock of 24 m2. Pigs were fed a diet computed according to standard requirements and supplied on a basis of 9% of metabolic weight (live weight0.75). Pigs were slaughtered at 110.69 ± 0.85 kg. The rearing system did not significantly affect growth, hot and cold dressing, meat quality of m. longissimus lumborum or IMC. Outdoor pigs had less (P < 0.05) backfat thickness, slightly higher (P = 0.082) lean percent and a meat with lower pH and fat than the conventional system. In light of these results, alternative pig rearing systems with indoor space and free outdoor access could be an interesting production system for the pigs. Compared with the pigs fed diets with corn grain silage, those fed diets without corn had higher (P < 0.05) lean, ham percentage and IMC content, lower (P < 0.05) neck percentage but similar main tissue components of the ham and meat quality. Compared with the gilts, barrows were fatter and showed a meat with different physico-chemical traits, which was slightly more tender and had similar IMC properties.