56: Eponymous conditions

Eponymous conditions

This chapter includes synopses of several eponymous conditions relevant to oral medicine, presented alphabetically.

Abrikossof tumour Granular cell myoblastoma (tumour).

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.

Adies (Holmes–Adie) pupil A benign condition. One pupil is dilated and reacts only very slowly to light or convergence together with loss of knee or ankle jerks.

Albers-Schonberg disease Osteopetrosis (p. 405).

Albright syndrome (McCune–Albright syndrome) Polyostotic fibrous dysplasia with skin pigmentation and an endocrine abnormality (usually precocious puberty in girls).

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.

Alstrom syndrome Congenital nerve deafness and retinitis pigmentosa.

Apert syndrome Autosomal dominant craniofacial synostosis, which includes facial dysmorphology, limb (hands and feet) defects, and learning disability.

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.

Arnold–Chiari syndrome A congenital malformation in which the brainstem and cerebellum are longer than normal and protrude into the spinal canal.

Ascher syndrome (Ascher-Laffer syndrome) Congenital double lip with blepharoclasia and thyroid goitre.

Avellis syndrome A unilateral paralysis of the larynx and palate.

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.

Battle sign Bruising over the mastoid bone – sign of a basilar skull fracture.

Becker syndrome Severe muscular dystrophy that results in progressive weakness of limb and breathing muscles.

Beckwith–Wiedemann syndrome Congenital gigantism, and omphalocoele or umbilical hernia.

Beeson sign Myalgia, facial oedema and fever in trichinosis.

Behçet syndrome ‘Adamantiades syndrome’ (see Ch. 36).

Bell palsy The common lower motor neurone facial palsy (see Ch. 37).

Bell sign Seen in lower motor neurone facial palsy, when the eye rolls upward on attempted closure.

Bence–Jones protein Immunoglobulin light chains which spill over into the urine (Bence–Jones proteinuria) when there is overproduction of γ-globulins in myelomatosis.

Biemond syndrome Congenital obesity and hypogonadism.

Binder syndrome Congenital maxillonasal dysplasia, and absent or hypoplastic frontal sinuses.

Blackfan–Diamond syndrome Congenital red cell aplasia.

Block–Sulzberger disease (incontinentia pigmenti) Congenital hyperpigmented skin lesions, skeletal defects, learning disability and hypodontia.

Bloom syndrome Congenital telangiectasia, depigmentation and short stature.

Bohn nodules Keratin-filled cysts derived from palatal salivary gland structures scattered all over the palate, especially at the junction of the hard and soft palate.

Book syndrome Autosomal dominant condition of palm and sole hyperhidrosis, hypodontia and premature whitening of hair.

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.

Bruton syndrome Sex-linked hypoimmunoglobulinaemia, cervical lymph node enlargement, oral ulceration, recurrent sinusitis, absent tonsils.

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.

Byar–Jurkiewicz syndrome Gingival fibromatosis, hypertrichosis, giant fibroadenomas of the breast, and kyphosis.

Cannon disease Congenital white sponge naevus.

Carabelli cusp Congenital additional palatal cusp on upper molars.

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.

Castleman disease A rare disorder characterized by benign tumours in lymph node tissue throughout the body (i.e. systemic disease (plasma cell type)).

Chediak–Higashi syndrome A congenital immune defect in which neutrophils have large inclusions. Juvenile periodontitis and early tooth loss, plus oral ulceration.

Christmas disease Blood clotting factor IX defect.

Chvostek sign Tapping the skin over the facial nerve elicits involuntary twitching of the muscles of the upper lip or ipsilateral side of face – a sign of hypocalcaemia.

Clutton joints Symmetrical hydrarthrosis of knees in congential syphilis, appearing around puberty.

Cockayne syndrome Premature ageing, dwarfism, deafness and neuropathy.

Coffin–Lawry syndrome Congenital osteocartilaginous anomalies and learning disability.

Coffin–Siris syndrome Congenital defective neutrophil function, susceptibility to infection and skin pigmentation.

Cohen syndrome Autosomal recessive syndrome of alveolar bone loss, neutropenia, learning disability and obesity.

Costen syndrome Outmoded term relating to facial pain, otalgia and occlusal abnormalities, replaced by ‘temporomandibular pain– dysfunction syndrome’.

Cowden syndrome Autosomal dominant disorder affecting PTEN (phosphatase and tensin homologue) gene, congenital multiple hamartomas with oral papillomatosis and risk of breast and thyroid cancer.

Coxsackie virus Named after a town in New York state, Coxsackie viruses are many, and can cause herpangina, hand, foot and mouth disease, and other illnesses.

CREST syndrome Calcinosis, Raynaud disease, oesophageal involvement, sclerodactyly and telangiectasia (see scleroderma).

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.

Cronkhite–Canada syndrome Hypogeusia followed by diarrhoea, and ectodermal changes including alopecia, nail dystrophy and skin and buccal melanotic hyperpigmentation. Colonic polyps may be present.

Cross syndrome Athetosis, learning disability, gingival fibromatosis and hypopigmentation.

Crouzon syndrome Autosomal-dominant premature fusion of cranial sutures, midface hypoplasia and proptosis.

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.

Cushing syndrome Moon face with buffalo hump, hirsutism and hypertension due to an ACTH-producing pituitary adenoma.

Darier disease (Darier–White disease) An autosomal-dominant skin disorder with follicular hyperkeratosis, and sometime white oral papules.

Destombes–Rosai–Dorfman syndrome Rosai–Dorfman syndrome.

Di George syndrome A third branchial arch defect related to a chromosome 22 anomaly (CATCH22 syndrome) causing immunodeficiency; cardiac, thyroid and parathyroid defects.

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.

Duhring disease Dermatitis herpetiformis.

Eagle syndrome An elongated styloid process associated with dysphagia and pain on chewing, and on turning the head towards the affected side.

ECHO viruses Enteric cytopathogenic human orphan viruses.

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.

Epstein–Barr virus A herpesvirus implicated in infectious mononucleosis, hairy leukoplakia, nasopharyngeal carcinoma and some lymphomas.

Epstein pearls Cystic keratin-filled nodules derived from entrapped epithelial remnants along the line of fusion along the midpalatine raphe.

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.

Fallot tetralogy The combination of a ventricular septal defect (VSD) with pulmonary stenosis, the aorta ‘overriding’ the VSD and right ventricular hypertrophy.

Fanconi anaemia Congenital anaemia, abnormal radii and risk of oral carcinoma and leukaemia.

Felty syndrome Rheumatoid arthritis and neutropenia.

Filatov disease Infectious mononucleosis.

Fitzgerald–Gardner syndrome Gardner syndrome

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.

Fordyce disease (Fordyce spots) See Ch. 24.

Frey syndrome Gustatory sweating and flushing after trauma to skin overlying a salivary gland due to crossover of sympathetic and parasympathetic innervation to the gland and skin.

Froehlich syndrome Congenital obesity, hypogonadism, and risk of learning disability and open bite.

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%.

Garré osteomyelitis This is proliferative periostitis (p. 405).

Gasserian ganglion The trigeminal ganglion.

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.

Gilles de la Tourette syndrome Coprolalia (utterance of obscenities).

Goldenhar syndrome A variant of congenital hemifacial microsomia, presenting with microtia (small ears), agenesis of the mandibular ramus and condyle, vertebral abnormalities and epibulbar dermoids.

Goltz syndrome (focal dermal hypoplasia) An X-linked disorder with multiple mesenchymal defects, skin lesions, and oral warts and dental defects.

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, />

Jan 9, 2015 | Posted by in Oral and Maxillofacial Pathology | Comments Off on 56: Eponymous conditions
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