Addison disease (hypoadrenocorticism) Adrenocortical destruction, reduced cortisol, and subsequent increased release of pituitary adrenocorticotrophic hormone (ACTH). A rare disease of young or middle-aged females, the usual cause is autoimmune hypoadrenalism, rarely, tuberculosis, histoplasmosis (sometimes in HIV/AIDS) or carcinomatosis. Weight loss, weakness, and hypotension, with brown hyperpigmentation, especially in sites usually pigmented (areolae and genitals) or traumatized, in flexures, on the gingiva, and at the occlusal line are seen. Diagnosis is from low blood pressure, low plasma electrolyte and cortisol levels and impaired response to ACTH stimulation (Synacthen test). Management is fludrocortisone plus corticosteroids.
Allgrove syndrome – Triple-A syndrome (AAA), or Achalasia–Addisonianism–Alacrimia syndrome A genetic defect due to mutations in the AAAS gene, which codes for a WD-repeat protein termed ALADIN which may cause hyposalivation but the main problems are progressive adrenocorticohypofunction, lack of tears, achalasia, hypotension and hyperpigmentation.
Argyll–Robinson pupils Small, irregular, unequal pupils which fail to react to light, but do react to accommodation. Characteristically caused by neurosyphilis, may also be seen in diabetes, disseminated sclerosis or other conditions.
Bannayan–Riley–Ruvalcaba syndrome A rare autosomal dominant disorder related to Cowden syndrome, affecting chromosome 10q and the PTEN (phosphatase and tensin homologue) gene, characterized by excessive growth before and after birth. The head is large (macrocephaly) and often long and narrow (scaphocephaly); normal intelligence or mild learning disability; pigmented macules on penis, tongue polyps and/or subcutaneous hamartomas.
Bourneville disease (epiloia, tuberous sclerosis) Autosomal dominant; two loci – one on 9q34 and one on 16p13. A phakomatosis, there are fibromas at the nail bases (subungual fibromas); hamartomas in brain, kidneys and heart; and nodules in the nasolabial fold (adenoma sebaceum), plus pitting enamel hypoplasia.
Burkitt lymphoma Caused by Epstein–Barr virus, most common in children in sub-Saharan African endemic malaria areas, especially Uganda and Kenya, characterized by lymphomatous deposits in many tissues, especially the jaws (in 50% of patients). Responds well to chemotherapy.
Carney syndrome Autosomal dominant syndrome of myxomas, spotty lip pigmentation and endocrine overactivity (often Cushing syndrome). Cardiac myxomas cause death or serious disability in a quarter of affected patients.
Crohn disease (See orofacial granulomatosis: OFG). A chronic inflammatory idiopathic granulomatous disorder that may be caused by Mycobacterium avium subspecies paratuberculosis. Mutations in the CARD15 gene (NOD2 gene) are also implicated. About 20% have a blood relative with some form of inflammatory bowel disease.
Curry–Jones syndrome Unilateral coronal synostosis and microphthalmia, plagiocephaly, craniofacial asymmetry, iris coloboma, broad thumbs, hand syndactyly, foot polydactyly, skin lesions, gastrointestinal abnormalities and developmental delay.
Down syndrome (trisomy 21) The commonest recognizable congenital chromosomal anomaly. Patients are of short stature with characteristic brachycephaly, midface retrusion and upward sloping palpebral fissures (Mongoloid slant). Learning disability and dental anomalies and periodontitis are common.
Ehlers–Danlos syndrome A group of congenital collagen disorders (autosomal dominant, autosomal recessive, or X-linked), with altered mechanical properties of skin, joints, ligaments and blood vessels. Phenotypes vary depending upon which collagen type is affected. EDS is characterized by hyperflexible joints, hyperextensible skin, bleeding and bruising, and mitral incompetence. Patients can bend the thumb right back (Fig. 56.1) and may be able to touch the tip of their nose with their tongue. Recurrent dislocation of the temporomandibular joint may be seen. Dental anomalies include deep-fissured premolars and molars, dentinal abnormalities, such as shortened deformed roots, and multiple large pulp stones. Ten types were described: in types IV, VIII and IX there is severe early onset periodontal disease with loss of permanent teeth. Type III genotypes show resistance to local analgesia.
Ellis–van Creveld syndrome Also known as ‘chondroectodermal dysplasia’. This syndrome mapped to chromosome 4p consists of congenital polydactyly, dwarfism, ectodermal dysplasia, hypodontia and hypoplastic teeth and multiple fraenae.
Ewing tumour A primary malignant neoplasm of undifferentiated bone mesenchymal cells, extremely aggressive, expands rapidly, invades the soft tissues, and metastasizes early. Characteristically affects children and young adults, particularly males, but is rare in the jaws. Radiographically it has either a sunray or an onion-peel appearance due to deposition of new bone in layers. Microscopy shows sheets of uniform small round cells, with scanty, indistinct cytoplasm which contain glycogen. Treatment is chemo-radiotherapy, with a 5-year survival rate of over 50%.
Fabry disease Angiokeratoma corporis diffusum universale. An X-linked recessive error of glycosphingolipid metabolism with angiokeratomas on scrotum, hypertension, fever, renal disease and risk of myocardial infarction.
Foix–Chavany–Marie syndrome Bilateral anterior opercular syndrome, is a paralysis of the face and pharynx with anarthria, drooling, and general weakness in the face, caused by bilateral damage to the brain operculum, usually from a stroke, trauma or infection, and causing no limb paralysis and not interfering with involuntary movement such as smiling, chewing or blinking eyes.
Gardner syndrome Familial adenomatous polyposis (FAP), formerly termed familial polyposis coli (FPC). An autosomal dominant condition caused by mutation in APC tumour suppressor gene on chromosome 5. Intestinal polyps have a 100% risk of undergoing malignant transformation, so early identification of disease is critical. Gardner described the occurrence of FAP with extracolonic manifestations of desmoids, osteomas and epidermoid cysts. Unerupted and supernumerary teeth may be present. Multifocal pigmented lesions of the fundus of the eye are seen in 80%.
Gaucher disease The most common genetic disease affecting Ashkenazi Jewish people of Eastern European ancestry, leading to a specific deficiency of the enzyme glucocerebrosidase and lipid-storage disorder. It may cause dry mouth.
Gorlin–Goltz syndrome (Gorlin syndrome; multiple basal cell naevi syndrome; naevoid basal cell carcinoma syndrome (NBCCS)). An autosomal-dominant trait related to chromosome 9q22.3-q31 and associated with patch gene mutations and deletions. The syndrome consists of multiple basal cell carcinomas (BCC), keratocystic odontogenic tumours (KCOTs), vertebral and rib anomalies and temporoparietal bossing with broad nasal root, calcification of the falx cerebri and abnormal sella turcica. Jaw cysts are indistinguishable from other KCOTs and are treated similarly. Diagnosis is suggested by major criteria – positive family history; more than one BCC; KCOTs (first sign in 75%); palmar or plantar pits; or calcified falx cerebri. Minor criteria include congenital skeletal anomalies: bifid, />