Amniotic band syndrome is one of the many causes of aplasia cutis congenita. It is usually seen as a constriction band surrounding a limb or as a membrane that adheres to some part of the body. This syndrome can be associated with various malformations. An infant with amniotic adhesions producing aplasia cutis, radial palsy, and hypoplasia of the radius is presented. Early treatment led to total functional recovery of the affected limb.
Cysts of the median raphe are embryologic developmental anomalies of the male genitalia. Although generally present since birth, these lesions tend to manifest in adult life. Histologically the cysts are characterized by a pseudostratified epithelium in the middle dermis. The early age at consultation is a common characteristic in four of the five patients reported herein and is probably due to the growing concern among the general population about skin problems.
The few cases reported to date and the clinicopathological features of this case suggested an immunological response as the most likely cause of the reaction.
Congenital lower lip pits are a rare developmental malformation of the lower lip. Clinically they present as bilateral depressions in the vermilion zone of the lower lip. It is important to be aware of this disorder because lower lip pits have also been reported in a variety of other congenital disorders and are associated with other malformations. Ten cases of this entity are presented. Nine of the 10 patients are members of two related families. The clinical and pathologic picture as well as some of the genetic and therapeutic aspects of this peculiar condition are discussed.Congenital fistulas of the lower lip are congenital malformations that were first described by Demarquay in 1845 (1). This entity is also known under the eponym "Van der Woude syndrome" because the more recent extensive description by Van der Woude in 1954 (2). Their clinical relevance is based on their frequent association with cleft lip and cleft palate, and less commonly with other congenital anomalies. A series of 10 patients is presented, 9 of whom were members of two related families. The remaining patient had no affected relatives. CASE REPORTS Patient 1A 2-year-old boy had bilateral depressions on both sides of the midline of the lower lip present since birth. The lesions were asymptomatic. His parents reported no secretions from the pit. Physical examination revealed no other anomalies of the oral cavity, periauricular region, or rest of the body. Pregnancy and delivery had been uneventful. No first-or second-generation relatives exhibited similar lesions. Patient 2A 20-year-old woman presented with dryness and fissures affecting the lower lip. The patient ascribed these lesions to sporadic watery secretions from the base of a pair of bilateral labial pits present since birth (Fig. 1). On examination, a stylet could be advanced several millimeters into the pits, and compression of the margins produced a saliva-like secretion. The lesions were excised, and the histologic study revealed an invagination that progressively thinned toward the base (Fig. 2). The lining consisted of stratified epithelium similar to the epithelium lining the lips. Intracellular edema and abundant clear and vacuolated cells were observed. Patients 3-10A family study showed the presence of identical lesions in a younger male sibling of patient 2, their maternal aunt, and five of her living offspring. Three of these offspring moreover had a cleft palate, while one had both a cleft palate and cleft lip (Figs. 3 and 4).
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