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PubMed2000

Coccygeal pits.

BACKGROUND: Congenital dermal sinuses represent cutaneous depressions or tracts that are lined by stratified squamous epithelium. They communicate between the surface of the skin and deeper structures and may occur anywhere along the craniospinal axis. These sinuses are thought to result from abnormal separation of the cutaneous and neural ectoderm between the third and fifth week of intrauterine life. They may be often accompanied by other cutaneous stigmata, various dysraphic abnormalities, or intraspinal tumors. In the sacrococcygeal area, cutaneous congenital abnormalities are relatively common. It is estimated that 2% to 4% of children harbor intergluteal dorsal dermal sinuses. These intergluteal sinuses in the perianal region are frequently referred to as pits or dimples. Their cause is considered similar to other congenital dermal sinuses and appears unrelated to acquired pilonidal conditions observed in adults. They may become susceptible to local recurrent infection from trauma or hirsutism. Controversy regarding the evaluation and management of cutaneous defects in the coccygeal region exists. METHODS: Both a literature review and a career review of clinical material were performed. Databases for articles published in English were surveyed for key words relating to coccygeal sinuses using standard computerized search techniques. The medical records of children presenting to our neurosurgical clinic for evaluation of dorsal dermal sinuses were reviewed to identify those with intergluteal sinuses. RESULTS: In the evaluation of reported cases and of our own, we were unable to identify any children with coccygeal sinuses without other cutaneous markers other than hair with findings suggestive of intraspinal communication. CONCLUSIONS: Intergluteal dorsal dermal sinuses are relatively common lesions that frequently come to neurosurgical attention. They do not seem to be associated with significant risk of spinal cord and intraspinal anomalies. Simple intergluteal dorsal dermal sinuses without other cutaneous findings do not require radiographic or surgical evaluation and treatment. If other markers or neurologic symptoms are present, however, radiographic evaluation may be indicated.

Buttocks↗

PubMed1987

Microscopic-anatomical changes in the chick embryo after administration of 9-(RS)-(2,3-dihydroxypropyl) adenine.

Microscopic-anatomical changes were followed in embryos of white leghorn fowl 1-5 days after administration of 9-(RS)-(2,3-dihydroxypropyl) adenine on day 2 of incubation. The main changes involved the spinal cord, eyes, and extremities, manifesting gross structural abnormalities. Development of the limb buds appeared to be arrested at stages corresponding to the third day of incubation, with their apical ectodermal ridges frequently absent. A conspicuous feature of all the experimental embryos was a seriously damaged spinal cord. The disturbance of spinal cord development was reflected in defective formation of vertebral anlagen. Development of eye anlagen was arrested at the optic cup stage. The lens, however, developed normally. No causal relationship between the CNS abnormalities and limb damage was determined.

Abnormalities, Drug-Induced↗

PubMed2003

Encephalotrigeminal angiomatosis.

We report an unusual case of encephalotrigeminal angiomatosis in which the facial and oral angioma was bilateral, and several teeth were congenitally absent. The developmental nature of the anomaly is reviewed. Encephalotrigeminal angiomatosis is commonly referred to as the Sturge-Weber syndrome, after Sturge and Weber who first described this affliction in 1879. The main clinical features of this syndrome are 1. venous angiomatosis of the leptomeninges of the cerebral-cortex, usually unilaterally 2. ipsilateral facial angiomatosis that often follows in outline the distribution of the trigeminal nerve (Fig 1) 3. ipsilateral gyriform calcification of the cerebral cortex 4. epileptic convulsions (contralateral focus) or other seizures 5. ocular defects (choroidal angioma, glaucoma hemianopia) 6. mental retardation 7. contralateral hemiplegia 8. obesity 9. oral mucosal and gingival involvement. Other less typical features are 1. association with hypomelanosis of 1 to 10 2. leptomeningeal angioma contralateral to the facial nevus 3. leptomeningeal angioma without facial vascular naevus 4. association with gastro intestinal hemorrhage 5. paranasal sinus enlargement. This syndrome that affects males and females equally, is a rare congenital disorder, apparently hamartomatous in nature, from persistence of a primitive embryonal vascular plexus. During the sixth week of intra-uterine life this plexus develops around the cephalic portion of the neural tube and under the ectoderm in the region destined to become facial skin. In the Sturge-Weber syndrome, the vascular plexus fails to regress, as is normal during the ninth week, resulting in angiomatosis of the related tissues. Variation in the degree of persistence or regression of the vascular plexus accounts for unilaterality or bilaterality of involvement, and also for an incomplete syndrome in which the leptomeninges, but not the facial tissues are affected. Leptomeningeal angiomatosis is the primary abnormality of encephalotrigeminal angiomatosis, all other features of the syndrome probably being secondary to this. Calcification of the cortex is a poorly understood phenomenon which may result from stasis of blood in the angioma, associated with altered local metabolism. Epilepsy and other neurological seizures, and mental retardation are probably, in their turn, secondary to the cortical calcification. The most striking clinical feature of the Sturge-Weber syndrome is the facial vascular naevus which generally follows the distribution of innervation of one or more divisions of the trigeminal nerve, whence the term encephalotrigeminal angiomatosis. However, the naevus may be more extensive, down the neck and even onto the chest. The oral tissues underlying the affected facial tissues are invariably also angiomatous and may be considerably enlarged as a result. Alterations in eruption of teeth have also been noted. Histologically, affected soft tissues are very vascular, resembling a pyogenic granuloma or a capillary, or cavernous hemangioma. Yukna, Cassingham and Carr noted that affected bone was partially replaced by a delicate fibrous tissue containing thin-walled vascular spaces. Neither inflammatory cells, nor fatty or haemopoietic marrow was noted.

Anodontia↗

PubMed2003

Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives.

Abnormalities, Multiple↗

PubMed2004

[Large scalp and skull defect in patient with aplasia cutis congenita].

Aplasia cutis congenita is a rare condition characterized by the absence of skin layers. It is most common on the scalp, middle line, and it can be seen as a congenital ulcer involving periosteum, skull and dura. We present the case of a female newborn infant with a dysmorphic facies, a large scalp and skull defect exposing the dura. There was no cerebrospinal fluid leakage. The rarity of cases with large defects and small series reported make difficult to determinate the ideal treatment for aplasia cutis congenita. More studies are necessary to define the etiology and best management of this patients.

Ectodermal Dysplasia↗

PubMed1998

Surgical management of cutis aplasia with high-flow sinus pericranii.

Cutis aplasia (cutis aplasia congenita cystica) is a rare congenital disorder with failure of completion of the extracerebral coverings, involving a defect in the scalp and often a cranial defect. A case of cutis aplasia is reported with an associated high-flow venous fistula or sinus pericranii, resulting in altered venous drainage of sagittal sinus blood through dilated scalp veins. Radiological workup to ensure patency of the superior sagittal sinus was critical to the surgical management in this case.

Adult↗

PubMed1980

The median nasal sinus and dermoid cyst.

The median nasal sinus and the dermoid cyst of the nose are relatively rare congenital anomalies. The most likely hypothesis for their ontogeny seems to be the retention of ectodermal fragments during closure of the anterior foramen of the neural tube early in embryonal development. The results of the surgical management of fourteen patients with a median dermoid cyst of the nose are discussed. Presenting symptoms were recurrent abscess formation on the dorsum of the nose, a secreting fistula in the median line of the dorsum of the nose, or meningitis. The draining site of the sinus varied less than the location of the dermoid cyst. Treatment consisted in radical excision in a quite stage, using the binocular microscope followed by primary reconstruction of nasal skeletal defects. Anomalies are due not only to development disturbances in the surrounding structures owing to the presence of the sinus and the cyst, but also to growth of the cyst and to infection. Partly for that reason, early surgical management is indicated. It should be preceded by proper radiological examination, because this can provide important clues as to the site of the dermoid cyst. If an endocranial extension has been established preoperatively, a combined ORL and neurosurgical operation is necessary.

Abnormalities, Multiple↗

PubMed2006

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

Noonan syndrome is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies. Increased RAS-mitogen-activated protein kinase (MAPK) signaling due to PTPN11 and KRAS mutations causes 50% of cases of Noonan syndrome. Here, we report that 22 of 129 individuals with Noonan syndrome without PTPN11 or KRAS mutation have missense mutations in SOS1, which encodes a RAS-specific guanine nucleotide exchange factor. SOS1 mutations cluster at codons encoding residues implicated in the maintenance of SOS1 in its autoinhibited form. In addition, ectopic expression of two Noonan syndrome-associated mutants induces enhanced RAS and ERK activation. The phenotype associated with SOS1 defects lies within the Noonan syndrome spectrum but is distinctive, with a high prevalence of ectodermal abnormalities but generally normal development and linear growth. Our findings implicate gain-of-function mutations in a RAS guanine nucleotide exchange factor in disease for the first time and define a new mechanism by which upregulation of the RAS pathway can profoundly change human development.

Animals↗

PubMed2003

Making headway: the roles of Hox genes and neural crest cells in craniofacial development.

Craniofacial development is an extraordinarily complex process requiring the orchestrated integration of multiple specialized tissues such as the surface ectoderm, neural crest, mesoderm, and pharyngeal endoderm in order to generate the central and peripheral nervous systems, axial skeleton, musculature, and connective tissues of the head and face. How do the characteristic facial structures develop in the appropriate locations with their correct shapes and sizes, given the widely divergent patterns of cell movements that occur during head development? The patterning information could depend upon localized interactions between the epithelial and mesenchymal tissues or alternatively, the developmental program for the characteristic facial structures could be intrinsic to each individual tissue precursor. Understanding the mechanisms that control vertebrate head development is an important issue since craniofacial anomalies constitute nearly one third of all human congenital defects. This review discusses recent advances in our understanding of neural crest cell patterning and the dynamic nature of the tissue interactions that are required for normal craniofacial development.

Animals↗

PubMed2001

Aplasia cutis congenita. Report on 5 family cases involving the scalp.

Aplasia cutis congenita (ACC) is a rare malformation involving the scalp and sometimes the underlying tissues. It may occur as an isolated defect or be combined with congenital malformations and there is often a family background. The mortality rate is high, with infectious and vascular complications. We report our experience based on the treatment of 5 ACC of the scalp in children, where a family pathology was found.Controlled healing is the best approach for us, even for the serious forms. After the acute period, treatment is based on skin expansion and must be followed by genetic screening of the family.

Ectodermal Dysplasia↗

PubMedDate not supplied

Basement membrane fragility underlies embryonic lethality in fukutin-null mice.

Fukuyama-type congenital muscular dystrophy (FCMD), associated with brain malformation due to defects in neuronal migration, is caused by mutations in fukutin. Several lines of evidence suggest that the fukutin protein plays a pivotal role in synthesis of O-mannosyl sugar moieties of alpha-dystroglycan, a cell surface laminin receptor. Here, through targeted disruption of the orthologous mouse fukutin gene, we show that the fukutin protein is essential, as homozygous-null embryos die by E9.5 of gestation. Fukutin-null embryos show phenotypic diversity, features of which include growth retardation, folding of the egg cylinder, leakage of maternal red blood cells into the yolk sac cavity, and an increased number of apoptotic cells in the ectoderm. Loss of immunoreactivity against sugar moieties in alpha-dystroglycan suggests a reduced laminin-binding capacity. Ultrastructural analysis shows thin and breached basement membranes (BMs). BM fragility may underlie all of these abnormal phenotypes, and maintenance of BM function may require fukutin-mediated glycosylation of alpha-dystroglycan early in embryonic development.

Animals↗

PubMed1998

Congenital cutaneous defects as complications in surviving co-twins. Aplasia cutis congenita and neonatal volkmann ischemic contracture of the forearm.

BACKGROUND: During twin pregnancies, several complications may result in the death of a co-twin depending on the date of death. We describe herein 2 infant survivors of monozygotic twin pairs with 2 distinct possible complications: a aplasia cutis congenita and Volkmann ischemic contracture. OBSERVATIONS: One infant had extensive aplasia cutis congenita with an associated monozygotic co-twin who died at 3 months of gestation, and the other child had a localized arm defect due to Volkmann ischemic contracture and brain damage, with a co-twin who died at approximately 6 weeks of gestation. CONCLUSIONS: Congenital cutaneous defects may result in the death of a co-twin. The most common of these defects is aplasia cutis congenita associated with a fetus papyraceus or a dead fetus related to ischemic/thrombotic events in the placenta and fetus. Volkmann ischemic contracture is rare in the newborn but can cause neonatal cutaneous defects. The cause of Volkmann ischemic contracture in newborns is unknown; however, our second observation suggests the possible role of a dead fetus.

Compartment Syndromes↗

PubMed2005

Non-heparan sulfate-binding interactions of endostatin/collagen XVIII in murine development.

Knobloch syndrome is characterized by a congenital generalized eye disease and cranial defect. Pathogenic mutations preferentially lead to a deletion or functional alteration of collagen XVIII's most C-terminal endostatin domain. Endostatin can be released from collagen XVIII and is a potent inhibitor of angiogenesis and tumor growth. We show differential expression of binding partners for endostatin, vascular endothelial growth factor (VEGF), and the collagen XV endostatin homologue in murine embryonal development using a set of alkaline phosphatase fusion proteins. Consistent with the human phenotype, vascular mesenchyme in the developing eye was identified as endostatin's primary target. While endostatin predominantly bound to blood vessels, the VEGF164 affinity probe labeled nonvascular tissues such as forebrain, hindbrain, the optic nerve, and the surface ectoderm of the future cornea. Strikingly increased staining specificity was observed with a non-heparin/heparan sulfate-binding endostatin probe. In contrast, elimination of the heparan sulfate binding site from VEGF led to complete loss of binding. The collagen XV endostatin homologue showed a highly restricted binding pattern. Oligomerization with endogenous endostatin was ruled out by use of collagen XVIII knockout mice. Our data provide strong evidence that collagen XVIII's C-terminal endostatin domain harbors a prominent tissue-binding site and that binding can occur in the absence of heparan sulfates in situ.

Alkaline Phosphatase↗

PubMed2003

Identification and regulation of tissue-specific cis-acting elements associated with the human AP-2alpha gene.

Mice lacking transcription factor AP-2alpha exhibit defects in the formation of the head, body wall, heart, neural tube, eye, and limbs, reflecting important sites of AP-2alpha expression in the developing embryo. AP-2alpha is also expressed in the postnatal mammary gland and has been linked to tumor progression and defects in growth regulation in the breast. We have used a transgenic mouse approach to identify tissue-specific cis-acting sequences associated with expression of the human AP-2alpha gene. Our analysis indicates that multiple elements located throughout the gene contribute to expression in the trigeminal ganglia, spinal cord, mammary gland, and epidermis. A discrete cis-element located within the fifth intron is required for expression in the face and limbs, and we have derived a permanent line of AP-2alpha::lacZ transgenic mice to assess expression of this latter enhancer throughout morphogenesis. We also introduced this transgene into an AP-2alpha-null mouse background and detected subtle alterations of its expression within the progress zone and apical ectodermal ridge of the forelimbs. Similar changes in lacZ expression were observed within the zeugopod, and these correlated with defects in radius condensation in AP-2alpha-knockout mice. Taken together, these findings indicate that cell:cell communication within the forelimb is altered in the absence of AP-2alpha and reveal novel regulatory potential for AP-2alpha in limb development.

Animals↗

PubMed2004

Use of a water-vapour permeable polyurethane film (omiderm) in the non-surgical treatment of aplasia cutis congenita.

Aplasia cutis congenita is characterised by congenital absence of all layers of skin, and most commonly affects the scalp. It is often associated with absence of the bone and dura underlining the defective scalp. In this report, we present the result of use of a water-vapour permeable polyurethane film (Omiderm) together with absorbant fine mesh gauze impregnated with 3% bismuth tribromophenate (Xeroform) in the treatment of a cranial defect in a newborn baby of low birth weight, who could not be operated on because of associated medical problems.

Bandages↗

PubMed1976

Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families.

The association of nephronophthisis and tapeto-retional degeneration was described by both Senior and Loken in 1961, but prior to 1974 only 28 cases had been published. This report describes 8 new cases in 27 members of 5 families. The severe juvenile type produces blindness in infancy and death from renal failure before the age of ten. The adult type is characterized by later onset, slower progression of the renal disease and milder ocular manifestations. The eye disease may be congenital amaurosis of Leber type, pigmentary retinal degeneration or retinitis punctata albescens and the electroretinogram (ERG) is of value in the diagnosis of these varieties of hereditary tapeto-retinal degeneration. Renal involvement is often asymptomatic. Defective urinary concentration leading to polyuria and polydipsia is the earliest sign. Proteinuria is inconstant and urinary sediment is often normal. Two patients had aminoaciduria. The disease progresses inexorably to chronic renal failure. One patient has been successfully transplanted and two others are on chronic hemodialysis. Renal histological changes are those of nephronophthisis with tubulointerstitial lesions and multiple cysts. Senior-Loken syndrome appears to be transmitted by a single autosomal recessive pleotropic gene of variable expression. Degeneration of neuroepithelium and renal tubular epithelium, both tissues of ectodermal origin, may represent a genetically determined enzyme abnormality.

Adolescent↗

PubMed2000

A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation.

Adams-Oliver syndrome (AOS) is a rare congenital disorder, characterized by aplasia cutis congenita (ACC) of the scalp and variable degrees of terminal transverse limb defects. In this article, a newborn infant diagnosed as AOS for a large scalp defect, acrania, and finger malformations is presented. The patient was hospitalized and the scalp defect was successfully repaired with several surgical operations. During the hospitalization septicemia, meningitis, and convulsions developed, but they were successfully treated with appropriate antibiotics, antifungal, and anticonvulsive agents, He was discharged five months after admission to the hospital. Now, he is 3 years old, and has microcephaly, moderate mental retardation, left spastic hemiplegia, and epilepsy.

Abnormalities, Multiple↗

PubMed1986

Aplasia cutis congenita: a clinical review and proposal for classification.

Aplasia cutis congenita is a condition in which localized or widespread areas of skin are absent at birth. Several distinct clinical subtypes occur, characterized by the location and pattern of skin absence, the presence of associated malformations, and the mode of inheritance. The disorder is seen most frequently on the scalp, often as a solitary lesion without other anomalies. Scalp lesions can be seen in association with limb reduction defects and in association with epidermal and organoid nevi. Lesions may overlie overt or occult embryologic malformations. A form of aplasia cutis congenita occurs in association with placental infarcts or the in utero death of a twin fetus. The condition may be associated with epidermolysis bullosa, specific teratogens or intrauterine infections, or it may occur in the presence of chromosomal abnormalities, ectodermal dysplasias, or other syndromes of malformation. A classification for aplasia cutis congenita is proposed.

Abnormalities, Drug-Induced↗