Congenital lower lip pits (van der Woude syndrome): what pathologists need to know. 2013

Rong Fan, and Roberto L Flores, and Philip R Faught, and Jingmei Lin
1  Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.

Congenital lower lip pits are cardinal findings of van der Woude syndrome [OMIM 119300]. The nosologic context of how lower lip pits are catalogued is easily lost because of insufficient clinical history, subtle findings misidentified as artifacts, lack of awareness by the pathologist, the perception that these are identify/confirm descriptive-diagnosis only, not necessarily an element of an actionable report, and/or the rarity with which these specimens are accessioned (in the authors' experience, less than 1 case per year). We present the salient findings on 19 lower lip pits specimens from the files of a single institution collected over the last 25 years.

UI MeSH Term Description Entries
D008046 Lip Either of the two fleshy, full-blooded margins of the mouth. Philtrum,Lips,Philtrums
D008297 Male Males
D010338 Pathology, Clinical A subspecialty of pathology applied to the solution of clinical problems, especially the use of laboratory methods in clinical diagnosis. (Dorland, 28th ed.) Clinical Pathology
D010820 Physicians Individuals licensed to practice medicine. Physician
D002971 Cleft Lip Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. Harelip,Cleft Lips,Harelips,Lip, Cleft,Lips, Cleft
D002972 Cleft Palate Congenital fissure of the soft and/or hard palate, due to faulty fusion. Cleft Palate, Isolated,Cleft Palates,Palate, Cleft,Palates, Cleft
D003560 Cysts Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues. Cyst
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities

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