Congenital erosive and vesicular dermatosis: a new case and review of the literature.

Congenital erosive and vesicular dermatosis is a rare syndrome first described by Cohen et al in 1985. Most of the 18 cases published have been reported in premature newborns. Affected babies typically present with erosions and vesicles that tend to heal shortly after birth with reticulated scaring. We report an additional case, followed up for 5 years, in which we excluded a pathogenic mutation in the TP63 gene.

Congenital macular scars in siblings from CLDN19 mutations.

We report 2 consecutive siblings who presented with unilateral and bilateral macular scars, respectively (initially presumed in the older sibling to be from congenital toxoplasmosis), who also developed chronic kidney disease. Both underwent genetic testing and were positive for a mutation in CLDN19, confirming the diagnosis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement. One of our patients had the unique finding of mild foveal hypoplasia, which is not typically associated with CLDN19 mutations.

Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome.

Epidermal nevus syndrome is a clinically variable and genetically heterogeneous group of mosaic conditions characterized by the concurrence of extensive epidermal nevus with additional cutaneous and extracutaneous manifestations. This term groups together well-characterized clinical entities, as well as dozens of apparently unique associations, which need further delineation. We report on a 23-year-old woman presenting the previously undescribed combination of widespread eccrine proliferation, multiple facial and oral pox-like lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation. The patient has a healthy monozygotic twin. The eccrine proliferation is intermingled with areas of unaffected skin with a linear/segmental distribution on the limbs. The clinical presentation of such a complex phenotype fits well with the genetic mosaicism theory. The histologic findings, consisting of proliferation of immature to well-formed eccrine duct-like structures located in the deep dermis and interspersed with an abundant fibrous stroma constituted of horizontally oriented collagen fibers, seem a possible hallmark of this condition.

Congenital erosive and vesicular dermatosis with reticulated scarring in a newborn: an innovative treatment using a silicone dressing.

Congenital erosive and vesicular dermatosis healing with reticulated supple scarring is a rare entity presenting in the newborn with crusted erosions and vesicles that heal relatively rapidly, forming unique reticulated scars. We report the case of a premature baby 31 weeks old. Diagnosis was confirmed by skin biopsies, and the clinical improvement was excellent, with complete healing observed within 7 weeks. This report highlights clinical and histopathologic features, and a new successful treatment approach using a silicone dressing.

Cutaneous scar at anterior hair line in mother and child with associated frontal bone defect in child.

A large frontal bone defect underlying a "V" shaped scar was noted in a newborn male whose mother had an identical "V" shaped scar at the same location in the anterior hairline. Both had hypertelorism and short palpebral fissures. The mother had no radiographic evidence of skull defect and neither mother nor child had other cutaneous or skeletal anomalies. Cranioplasty was performed on the child using the remaining frontal bones with an excellent cosmetic result. Biopsy performed at operation documented scar tissue extending through the dermis and underlain by thickened dura. Mother and child appear to have a variant form of aplasia cutis congenita, an autosomal dominant trait with wide variation in expression.

Needle puncture scars from midtrimester amniocentesis.

A neonate was noted to have two depressed scars on the upper part of the back at birth that we believe resulted from midtrimester amniocentesis; no underlying injury was apparent. Scar formation from needle puncture occurs in an estimated 1% to 3% of the infants whose mothers have undergone midtrimester diagnostic amniocentesis. The scars most commonly are depressed, dimplelike, and measure 1 to 2 mm in diameter, although linear scarring may also occur. Single or multiple scars may be present, and, in seven of the 36 infants previously described in the literature, internal injuries also occurred as a result of the needle puncture.

Congenital varicella syndrome.

The fetal consequences of chickenpox complicating pregnancy depends on the period of gestation at which the infection is contracted. The extremely rare classical form of congenital varicella syndrome, resulting from maternal varicella infection in the first trimester of pregnancy, is being reported here. The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall.

Overview about the keloid scars and the elaboration of a non-invasive, unconventional treatment.

Although the healing means 2 types of biological mechanisms that seem to be "pathologic", the swell and the granulations are a normal process in the biology of the human being, representing two systemic functions: the adaptation and the morphogenesis. There is a pathological healing in which the fundamental healing phenomenon is deviated from the normal. There are three variable parameters responsible for the pathological evolution of a scar: the cellular population, the fundamental matrix and the fibers. The healing evolution can be deviated to an intense maturation with an "old", atrophic scar, or to an incomplete maturation and the result is a hypertrophic or a keloid scar. For the hypertrophic scars, the excision and the skin graft lead to good results and the relapses are rare; the keloid relapse is always at the border between the graft and the wound edge, or between the two skin grafts. These are the considerations for which the treatments are mixed, combined (surgical, drugs, physiotherapy) both in our country and abroad, but the results are still frustrating. That is why new, modern methods of treatment are used today: criotherapy, laser, ultrasounds. However, even those treatments are not very successful: tissue expander, external press therapy, corticosteroids injections, other pharmacological agents (retinoic acid, colchicines, antineoplasics). We propose a regenerative, alternative, non-invasive treatment starting from the results we obtained in a research work 4 years ago, when we irradiated the fibroblasts in an electromagnetic high frequency millimeter waves field, and we obtained the fibroblasts apoptosis and the reorganization of the collagen fibers by changing the piezoelectric emission.

Histopatologia da forma labial cicatricial de Keith / Histopathology of Keith`s lip scar

O estudo da etiologia das formas congênitas ditas cicatriciais, que incluem bandas cicatriciais congênitas e formas cicatriciais das fissuras labiais, apresenta diversas teorias, que fundamentam seu aparecimento, porém não justificam todos os aspectos envolvidos nessas malformações. Neste artigo são apresentados 4 casos de pacientes portadores da forma cicatricial de Keith, submetidos à realização de queiloplastia pela técnica de Spina, comparados a 1 caso de paciente portador de cicatriz traumática. Todos os pacientes tiveram amostra de tecido enviada para estudo histopatológico, com coloração com hematoxilina-eosina. Os casos estudados apresentaram semelhanças entre a pele embrionária e a cicatriz comum.

Examinations of the etiology of congenital cicatricial presentations, which include congenital constriction bands and cicatricial presentations of cleft lip, have provided several theories that explain their development; however, they do not explain all the aspects involved in these malformations. In the present article, we present the cases of 4 patients with Keith's lip scar who underwent cheiloplasty using the spina technique. These cases were compared with 1 case of a patient with a traumatic scar. Tissue samples were obtained from all the patients for histopathological examination using hematoxylin-eosin staining. The cases under study exhibited similarities in embryonic skin and common scar tissue.

The small scarred kidney of childhood. A congenital or an acquired lesion?

The vast majority of small segmentally scarred kidneys seen in childhood are now recognised to be associated with vesicoureteric reflux and the term "reflux nephropathy" has been accorded general recognition as a description of this renal lesion. With regard to the pathogenic mechanisms responsible for the scarring process, the possible roles of intrauterine renal maldevelopment, bladder dysfunction, functional urinary obstruction and infection in relation to vesicoureteric reflux and the associated phenomenon of intrarenal reflux must all be considered. It is probable that in different clinical circumstances all of these factors may be important to varying degrees and discussion of their contributions to the spectrum of reflex nephropathy is the basis of this communication.

Skin dimpling associated with midtrimester amniocentesis.

Multiple dimple-like scars occurred in an infant whose mother had undergone midtrimester amniocentesis. The clinical description, prevalence, and differential diagnosis of this association are presented.

Congenital varicella syndrome diagnosed by polymerase chain reaction--scarring of the spinal cord, not the skin.

A term infant with congenital varicella syndrome (CVS) is reported. Monoplegia of the left arm and paraplegia were present with no evidence of dermatomal skin scarring. Following death at 12 days of age, autopsy documented severe atrophy and gliosis of the spinal cord. Testing for varicella-zoster virus by the polymerase chain reaction method on brain tissue was positive. This case extends the current understanding of the clinical and pathological features of CVS.

Prevalence of idiopathic corneal anomalies in a non contact lens-wearing population.

BACKGROUND: Successful clinic management of contact lens wear requires the differentiation of induced corneal changes from normal variation. Information concerning the type and prevalence of anomalous features occurring in the corneas of non contact lens wearers would assist the clinician to develop an accurate impression of the normal condition. METHODS: Seventy normal, asymptomatic, consecutively presenting, non contact lens wearers were subjected to an extensive biomicroscopic examination by a single clinician. RESULTS: Forty-nine percent of the sample were observed to have epithelial microcysts, 21% idiopathic scars, 20% endothelial bedewing, 10% epithelial vacuoles, 4% subepithelial microinfiltrates (SEMIs), and 4% Hudson-Stahli lines. Considerable day to day variation in the numbers of SEMIs was observed within subjects. CONCLUSION: These findings demonstrate that certain features which are frequently associated with contact lens wear occur idiopathically in the nonwearing eye.

[Dermal scars on the trunk of a newborn infant--a case of isolated amniotic band syndrome]. / Hautnarben am Stamm eines Neugeborenen--ein Fall von isoliertem Amnionbandsyndrom.

We report about a neonate with multiple scars born at our department. The cause of these alterations is the amniotic band disruption complex which will be discussed. This case is of forensic importance because the mother was battered in the 22nd week of gestation.

Renal parenchymal damage in male infants with high grade vesicoureteral reflux diagnosed after the first urinary tract infection.

PURPOSE: Vesicoureteral reflux during infancy is found mainly in males, and it is of high grade and often bilateral. The higher predominance of male infants is reported in series when the reflux is diagnosed prenatally and when it is detected after urinary tract infection. Renal parenchymal damage may already be present at birth before any episode of urinary tract infection or acquired after a febrile urinary tract infection. We evaluate the incidence of renal damage in a large series of male infants with high grade vesicoureteral reflux diagnosed after the first urinary tract infection. MATERIALS AND METHODS: We reviewed the medical and radiological records of 141 consecutive male infants 3 weeks to 1 year old (mean age 5.8 months) who were diagnosed with high grade (III to V) vesicoureteral reflux on voiding cystourethrography during 1984 to 2000 following hospitalization for the first febrile urinary tract infection. A total of 127 (90%) patients underwent technetium dimercapto-succinic acid scan to evaluate renal damage 3 to 6 months after the initial infection. RESULTS: Vesicoureteral reflux was unilateral in 46 infants and bilateral in the remaining 95, comprising 236 ureters. Reflux was grade III in 79 ureters, IV in 114 and V in 43. Renal parenchymal damage was detected in 56 (44%) of the 127 infants on dimercapto-succinic acid scan, and was bilateral in 18 and unilateral in the 38, representing 74 renal refluxing units. Renal damage was mild (greater than 40% uptake) in 47 units, moderate (less than 40% and greater than 20% uptake) in 22 U and severe (less than 20% uptake) in 5 U. CONCLUSIONS: This study shows that nearly half of the male infants with high grade reflux who present with the first febrile urinary tract infection have renal parenchymal damage. This high incidence of renal damage may be explained by the coexistence of the 3 risk factors of gender, urinary tract infection and high grade vesicoureteral reflux.