1/13. association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) constitutes a distinct entity characterized by prenatal overgrowth, macrosomia, hemihypertrophy, macrocephaly, nonobstructive hydrocephaly, frontal bossing, hypotonia, developmental delay, generalized or facial capillary malformation with upper philtral nevus flammeus and cutis marmorata, joint hypermobility, loose skin, toe syndactyly, and postaxial polydactyly. All but one of the cases reported previously had benign clinical courses without showing an increased risk of early infant death. We describe three additional cases with poor clinical outcomes including severe postnatal growth failure, intractable cardiac arrhythmia in two cases, and sudden infant death in two cases. Arrhythmia has not been described previously as one of the symptoms of M-CMCT. patients with M-CMTC associated with severe postnatal growth failure and arrhythmia may constitute a distinct clinical subtype of M-CMTC with an increased risk of life-threatening episodes or sudden death. Recognizing this clinical subtype of M-CMTC is important to prevent these serious potential complications.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
2/13. Congenital cystic eye with multiple dermal appendages: a case report.BACKGROUND: A partial or complete failure in the involution of the primary optic vesicle resulting in the formation of a cyst is an extremely rare anomaly known as congenital cystic eye. The primary optic vesicle is formed but instead of the anterior part of the vesicle involuting to lie in apposition with the posterior part, a cyst persists at birth and replaces the eye. CASE PRESENTATION: We report a case of congenital cystic eye associated with multiple dermal appendages in a 1-day-old female child. This condition presented at birth as a large orbital mass in the left orbit that bulged forwards and stretched the eyelids. No globe or any other ocular structures were identified in the orbit. Multiple dermal appendages were present in the adjacent part of the face below the left orbit and on the upper part of the neck. CONCLUSIONS: Congenital cystic eye is an extremely rare condition and with only 28 previous cases reported in the literature. We present the second case of congenital cystic eye with multiple dermal appendages of the face and neck.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
3/13. Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms.BACKGROUND: Restrictive dermopathy is a very rare autosomal recessive skin disorder. The typical pathologic findings are striking: microstomia, micrognathia, thin but very tight translucent skin that tears spontaneously, and arthrogryposis multiplex. The mechanisms behind this disease are unknown. OBSERVATIONS: We describe for the first time a newborn girl with restrictive dermopathy, transposition of the great vessels, and microcolon. She had thin shiny skin with nearly no compliance indicating restrictive dermopathy. Additional dysmorphic findings included enlarged fontanelle, hypertelorism, absent eyelashes, small pinched nose, microstomia, micrognathia, dysplastic ears, pterygium colli, dyplastic fingers and toes with upper- and partial lower-limb flexion contractures, dysplastic genitalia, and muscular hypotonia. She also had left transposition of the great artery with small atrial septal defect, bilateral hypoplasia of the first rib, and congenital stenosis of the small bowel with microcolon. CONCLUSIONS: The pathogonomic diagnostic features remain reduced dermal thickness and nearly complete absence of elastic fibers in the dermis. In mice, a defective fatty acid transport protein 4 gene (Fatp4) leads to clear signs of restrictive dermopathy by influencing the arrangement of the lipids in the epidermis. Whether the left transposition of the great artery is associated with restrictive dermopathy or represents an additional malformation of multifactorial, polygenetic, or monogenetic cause remains open.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
4/13. Median clefting of the upper lip associated with cutaneous polyps.Details are presented of a patient with median clefting of the upper lip and cutaneous polyps. Four similar published case reports are considered to share the same condition. The spectrum of the disorder encompassed by these five cases is discussed.- - - - - - - - - - ranking = 5keywords = upper (Clic here for more details about this article) |
5/13. Unilateral cryptophthalmos.A rare case of unilateral cryptophthalmos have unique findings is reported. The lateral part of the left eye was replaced by downward extension of the frontal hairline. The left upper eyelid, except in the lateral 4mm fully developed portion, was replaced by a fold adherent to the underlying disorganized globe (6.9 mm). The lower lid, however, was fully developed. Ocular and systemic features of cryptophthalmos have been reviewed. Predilection for the left eye in unilateral cases has been hinted for the first time.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
6/13. Expanded phenotype and ethnicity in Setleis syndrome.Setleis syndrome, an autosomal recessive disorder characterized by "coarse" face, temporal cutis aplasia, double upper eyelashes, absent lower eyelashes, chronic conjunctivitis, and prominent thick lips, was reported previously in 8 Puerto Rican children. We report on 3 unrelated children (one mentally retarded) with Setleis syndrome who are not of Puerto Rican descent. Two of our patients had imperforate anus, which has not previously been reported. The evolution of the phenotype over time is illustrated.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
7/13. True median cleft of the upper lip associated with three pedunculated club-shaped skin masses.A rare case of true median cleft of the upper lip associated with three skin masses is reported. While 114 cases of median cleft of the upper lip have been reported, in our literature review we found only 1 case, reported by Sharma, in which the median cleft was associated with skin masses. The embryology of this case is also discussed.- - - - - - - - - - ranking = 6keywords = upper (Clic here for more details about this article) |
8/13. Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review.Gerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the distinct facial appearance with sagging cheeks, premature wrinkling of the skin of face, abdomen, and dorsum of hands and feet; malocclusion, span greater than height; hyperextensibility; winging of the scapulae; stooped posture with kyphoscoliosis; protuberant abdomen; and pes planus. Radiologically they had generalized osteoplorosis, platyspondily due to multiple compression fractures, pseudoepiphyses of second metacarpals, and dislocated hips. Three other families with a total of 14 affected individuals have been reported. Inter- and intrafamilial variability can be recognized, particularly regarding the tendency to fractures, upper:lower segment ratio abnormalities, and results of skin biopsies, which have shown fragmentation of the elastic fibers in some cases (including the present family) and not in others. Although inheritance was considered to be X-linked recessive in the first reported family, an analysis of that pedigree together with those of the other reported families, including the present one, suggests that gerodermia osteodrysplastica is inherited in an autosomal recessive manner.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
9/13. Aplasia cutis congenita.Aplasia cutis congenita is an uncommon condition; fewer than 300 cases have been reported in the literature. Usually, the condition occurs as a focal scalp ulcer, but it may involve the full thickness of the skull or other areas of the body. Most lesions require coverage with a scalp flap, though only observation or split-thickness skin grafts may be adequate for smaller lesions. Four cases have been presented, representing a spectrum of therapeutic requirements from simple observation to emergency intervention to control life-threatening hemorrhage. The case of aplasia cutis congenita of the upper arm may represent a persistence of prenatal focal ischemia that has proved to be resistant to numerous attempts of split-thickness skin grafting.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
10/13. Epidermolysis bullosa in association with aplasia cutis congenita and pyloric atresia.A female infant born to a mother who had an elevated serum alpha-fetoprotein during early pregnancy, presented a combination of epidermolysis bullosa and aplasia cutis congenita. She developed evidence of upper gastrointestinal obstruction and died at the age of 43 hours. Post-mortem examination showed the presence of pyloric atresia and electron microscopy of skin biopsies showed epidermolysis bullosa simplex. Examination of the placenta revealed a unique abnormality of the membranes, indicating the existence of two sacs. This case and the previously reported cases, which are reviewed, suggest an autosomal recessive inheritance. serum alphafetoprotein estimation, ultrasonography and fetoscopy with skin biopsy are suggested as a means of pre-natal diagnosis in future pregnancies.- - - - - - - - - - ranking = 1keywords = upper (Clic here for more details about this article) |
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