Eponymous and acronymous diseases and signs

This chapter includes synopses of many relevant conditions; if a specific condition is not located here, please see index, as it may be elsewhere in the book. For eponymous medical signs, see also http://en.wikipedia.org/wiki/List_of_eponymous_medical_signs (accessed 30 September 2013).

Abrikossof tumour. Granular cell tumour.

Adamantiades syndrome. Behçet syndrome.

Addison disease. Autoimmune hypoadrenocorticism (Ch. 6).

Adie’s (Holmes–Adie) pupil. A benign condition in which one pupil is dilated and reacts only very slowly to light or convergence.

Albers–Schonberg disease. Osteopetrosis.

Albright syndrome (McCune–Albright syndrome). Polyostotic fibrous dysplasia with skin pigmentation and an endocrine abnormality (usually precocious puberty in girls; Ch. 16).

Allgrove syndrome. Autosomal recessive condition due to chromosome 12 mutation. Achalasia of cardia, adrenal insufficiency, alacrima (triple A syndrome) plus hyposalivation.

Alstrom syndrome. Congenital nerve deafness and retinitis pigmentosa.

Apert syndrome. Craniofacial synostosis with craniosynostosis, facial dysmorphology, hands and feet defects, and learning disability.

Argyll Robinson pupils. Small, irregular, unequal pupils that fail to react to light but do react to accommodation. Caused by neurosyphilis and other diseases.

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

Ascher syndrome. Congenital double lip with blepharochalasis (redundant eyelids) and thyroid goitre.

Asperger syndrome. A form of autism.

Avellis syndrome. Unilateral paralysis of the larynx and palate.

Battle’s sign. Bruising over the mastoid bone, a sign of basilar skull fracture.

Becker syndrome. Severe muscular dystrophy resulting in progressive weakness of limb and breathing muscles, almost exclusively in boys.

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

Beeson’s signs. Myalgia, facial oedema and fever in trichinosis.

Behçet syndrome. The triad of oral aphthous ulcers, genital ulceration and uveitis.

Bell palsy. A common lower motor neuron facial palsy, caused by inflammation in the stylomastoid canal (Ch. 13).

Bence Jones protein. Overproduction of gamma-globulins in myelomatosis, particularly of immunoglobulin light chains that spill over into the urine (Bence Jones proteinuria; Ch. 8).

Berardinelli–Seip syndrome. An autosomal recessive form of generalized lipodystrophy.

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, short stature and susceptibility to oral carcinoma.

Boeck syndrome. Sarcoidosis (Ch. 15).

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

Bourneville disease (epiloia, tuberous sclerosis). Autosomal dominant phakomatosis including fibromas at the nail bases (subungual fibromas), hamartomas in the brain, kidneys and heart, and nodules in the nasolabial folds (adenoma sebaceum) (Ch. 13).

Briquet syndrome. Somatisation (Ch. 10).

Brugada syndrome. A genetic disease characterized by abnormal ECG and a risk of sudden cardiac death (Ch. 5).

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

Burkitt lymphoma. (Ch. 8).

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 multisystem disorder of myxomas and lentigos.

Carpenter syndrome. Autosomal recessive acrocephalopolysyndactyly type II.

Castleman disease (angiolymphoid hyperplasia). Nodal lymphoproliferation that may progress to a malignant vascular tumour or lymphoma. Sometimes associated with paraneoplastic pemphigus.

CATCH22. Cardiac abnormality, abnormal facies, T–cell deficit (due to thymic hypoplasia), cleft palate and hypocalcaemia (due to hypoparathyroidism). A chromosome 22 defect (DiGeorge syndrome).

Charles Bonnet syndrome. Visual hallucinations arising in people who have eye conditions such as age-related macular degeneration, cataract, glaucoma or diabetic eye disease.

Chediak–Higashi syndrome. Congenital immune defect in which neutrophils have large inclusions.

Christmas disease. Deficiency of blood clotting factor IX (Ch. 8).

Chvostek sign. Tapping the skin over the facial nerve elicits involuntary twitching of the upper lip or ipsilateral side of face – seen in hypoparathyroidism (Ch. 6).

Clutton joints. Syphilitic neuropathic joints.

Cockayne syndrome. Premature ageing, dwarfism, deafness and neuropathy.

Coffin–Lowry syndrome. Congenital osteocartilaginous anomalies and learning disability.

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

Costen syndrome. Outmoded term relating to patients with facial pain, otalgia and possible occlusal abnormalities.

Cowden syndrome. Congenital multiple hamartoma syndrome, with oral papillomatosis and risk of breast and thyroid cancer.

Coxsackie virus. Named after Coxsackie in New York State. Coxsackie viruses can cause herpangina, hand, foot and mouth disease, and other illnesses.

CREST syndrome. Calcinosis, Raynaud disease, Oesophageal involvement, sclerodactyly and telangiectasia (see Scleroderma; Ch. 18).

Crohn disease. Chronic inflammatory idiopathic granulomatous disorder of the ileum or any part of the gastrointestinal tract, including the mouth (Ch. 7).

Cronkhite–Canada syndrome. Hypogeusia is the dominant initial symptom, followed by diarrhoea and ectodermal changes (alopecia, nail dystrophy, and skin and buccal melanotic hyperpigmentation).

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

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

Curry–Jones syndrome. Unilateral coronal synostosis and microphthalmia, plagiocephaly, craniofacial asymmetry, iris coloboma, broad thumbs, hand syndactyly, foot polydactyly, erosive skin lesions, gastrointestinal abnormalities and developmental delay.

Cushing syndrome. Moon face with buffalo hump, hirsutism and hypertension due to an pituitary adenoma producing adrenocorticotropic hormone (ACTH; Ch. 6).

Danon disease. Rare genetic condition causing muscular dystrophy, cardiomyopathy and learning problems.

Darier disease (Darier–White disease). Autosomal dominant skin disorder with follicular hyperkeratosis and sometimes white oral papules.

Destombes–Rosai–Dorfman syndrome. Rosai–Dorfman syndrome (see below).

DiGeorge syndrome. Congenital immunodeficiency with hypoplasia of thymus and parathyroids, characteristic facies with down-slanting palpebral fissures and ocular and nasal anomalies, and cardiac, thyroid and parathyroid defects due to a third and fourth branchial arch defect related to a chromosome 22 anomaly (CATCH 22 syndrome – see above) (Ch. 20).

Down syndrome (trisomy 21). Chromosomal anomaly causing learning disability, short stature, brachycephaly, mid-face retrusion and upward-sloping palpebral fissures (mongoloid slant; Ch. 28).

Duhring disease. Dermatitis herpetiformis.

Duncan disease. Rare sex-linked lymphoproliferative syndrome, characterized by severe Epstein–Barr virus mononucleosis, immunoblastic sarcoma or lymphoma.

Eagle syndrome. 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. Congenital disorders of collagen characterized by joint hyperflexibility, hyperextensible skin, bleeding and bruising, and mitral incompetence (Ch. 16).

Ellis–van Creveld syndrome (chondroectodermal dysplasia). Congenital polydactyly, dwarfism, ectodermal dysplasia; hypodontia and hypoplastic teeth; multiple fraena.

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

Epstein pearls. Small cysts due to persistence of epithelial rests in the alveolar ridge.

Fabry disease (angiokeratoma corporis diffusum universale). X-linked recessive error of glycosphingolipid metabolism with skin angiokeratomas, hypertension, fever, renal disease and risk of myocardial infarction.

Fallot tetralogy. Combination of ventricular septal defect (VSD) and pulmonary stenosis, with aorta ‘overriding’ (sitting ‘astride’) the VSD and with right ventricular hypertrophy.

Fanconi anaemia. Rare autosomal recessive syndrome of congenital anaemia, congenital skeletal defects (e.g. abnormal radii), hyperpigmentation and pancytopenia; associated with abnormal susceptibility to oral or other head and neck carcinomas and leukaemia at an early age (Ch. 8).

Felty syndrome. Rheumatoid arthritis and neutropenia.

Fitzgerald–Gardner syndrome. Gardner syndrome (see below).

Fordyce disease (Fordyce spots). Congenital ectopic sebaceous glands seen mainly in the buccal mucosa or lips.

Freeman–Sheldon syndrome. Rare form of multiple congenital contracture syndrome (arthrogryposis).

Frey syndrome. Skin gustatory sweating and flushing after trauma to skin over a salivary gland, due to crossover of sympathetic and parasympathetic innervation to the gland and skin.

Friedreich ataxia. Inherited progressive central nervous sytem damage causing features ranging from muscle weakness and speech problems to heart disease. Usually an autosomal recessive trait, leading to degeneration of many spinal cord tracts extending to the brainstem, and thus severe ataxia, loss of reflexes and secondary deformities. Degenerative heart disease with arrhythmias may be associated.

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

Gardner syndrome. Autosomal dominant syndrome of intestinal polyposis, bony abnormalities, soft-tissue tumours, multiple osteomas, fibromas and pigmented lesions of fundus of eye.

Garré osteomyelitis. Proliferative periostitis.

Gasserian ganglion. Trigeminal ganglion.

Gaucher disease. Inherited defect of lysosomal glucocerebrosidase – most common in Ashkenazi Jews, and causing skeletal defects, hepatosplenomegaly, anaemia and thrombocytopenia.

Gilles de la Tourette syndrome. A familial early-onset syndrome, seen mainly in males, of chronic motor tics involving the head and neck especially and associated with compulsive vocal tics and sometimes swearing (coprolalia). Tongue-thrusting and lip-smacking are common and sometimes regarded as lewd (copropraxia). Many of those affected have obsessive–compulsive tendencies or attention-deficit hyperactivity, but intelligence is usually normal. Temporomandibular or other oral pain may result and self-mutilation, such as tongue- and lip-biting, may be associated. The dopamine receptor blocker haloperidol is usually effective; pimozide and/or clonidine may also be used. Drugs used to treat the syndrome may cause xerostomia or tardive dyskinesia. Interactions of these drugs with general anaesthetic agents, other central nervous system depressants and atropine means that dental treatment is best carried out under local analgesia.

Glossopharyngeal neuralgia. Severe pain in the posterior tongue, fauces, pharynx and sometimes beneath the angle of the mandible.

Goldenhar syndrome. Variant of conge/>