Eponyms and Syndromes - A to C

Achard-Thiers syndrome

postmenopausal women; excess adrenocortical androgens leading to diabetes, hirsutism & masculinization

acquired circumscribed dermal melanocytosis of the face

AKA Hori nevus

acquired partial face-sparing lipodystrophy

fat loss of limbs associated with diabetes mellitus. AKA Dunnigan syndrome

acrodermatitis enteropathica

AR; ZIP4, zinc transporter deficiency: disorder of zinc uptake, vesiculopustulous dermatitis of head, body orifices, hands & feet with alopecia, diarrhea & steatorrhea

acrodermatitis papulosa infantum

AKA Gianotti-Crosti syndrome

actinic prurigo

AKA Hutchinson prurigo

acute disseminated histiocytosis X

AKA Letterer-Siwe disease/syndrome

acute hemorrhagic edema of infancy

AKA Finkelstein disease, Seidlmeyer’s syndrome

Adams-Oliver syndrome

AD/AR; aplasia cutis congenita of scalp with terminal transverse limb defects

Adamson fringe

bottom one-third of hair follicle, where incomplete and completely keratinized hair meet.  Nucleated epithelial cells forming the hair shaft become anucleate & Huxley layer loses its trichohyaline granules

Addison disease

adrenal insufficiency; hyperpigmentation, longitudinal nail bands, hypotension, altered serum electrolytes, vitiligo, weakness

adenosine deaminase deficiency

erythrocyte enzyme; thymic involution, decreased T-cell survival, abnormal B-cell function: mucocutaneous candidiasis, bacterial, protozoal & viral infections

adiposis dolorosa

AKA Dercum disease

Albright syndrome

AKA McCune-Albright syndrome

Alezzandrini syndrome

unilateral tapetoretinal degeneration followed by alopecia areata, facial vitiligo, poliosis, sometimes deafness

alkaptonuria

AR, homogentisic acid accumulation due to deficient homogentisate 1,2-dioxygenase; elevated urine homogentisic acid, ochronosis, arthritis

Ambras syndrome

AD; hypertrichosis of face, ears, shoulders with facial dysmorphism & dental abnormalities

Ancell-Spiegler syndrome

multiple cylindromas

angiokeratoma corporis diffusum

X-linked; inborn error of metabolism; deficiency of the lysosomal enzyme alpha-galactosidase results in deposition of neural glycosphingolipids in lysosomes of vascular endothelium.  Multiple angiokeratomas.  AKA Fabry disease

angry back syndrome

patch testing; false + reactions (up to 40%), hypersensitivity caused by strong + reaction to one allergen  AKA excited skin syndrome

anhidrotic ectodermal dysplasia

Christ-Siemens-Touraine syndrome

anticardiolipin Ab syndrome

arterial & venous thromboses, elevated anticardiolipin antibody, livedo reticularis, SLE

antiphospholipid Ab syndrome

lupus anticoagulent syndrome

Apert syndrome

acrocephalosyndactyly, associated with cutis verticis gyrata

Argyll-Robertson pupil

irregular, small, unequal pupils that react weakly to light; syphilis

Ascher syndrome

blepharochalasis, double lip & nontoxic thyroid enlargement

ataxia-telangiectasia

Louis-Bar syndrome

Auspitz sign

punctate bleeding at the sites of scale removal; psoriasis (except inverse or pustular psoriasis)

BADS syndrome

Black locks, oculocutaneous Albinism & Deafness of Sensineuronal type

Baraitser’s syndrome

atrichia, MR

Bart’s syndrome

AD, Type VII collagen defect G to A exon 73 Col 7A1; aplasia cutis congenita (esp. of legs); dominant epidermolysis bullosa dystrophica

Bart-Pumphrey syndrome

AD; palmoplantar keratoderma with sensorineural deafness AKA PED type XV

basal cell nevus syndrome

Gorlin’s syndrome, Gorlin-Goltz syndrome

Basan’s syndrome

AD, ectodermal dysplasia; fine dermal ridges, single flexion crease, xerosis, long philtrum, thin upper lip, nail ridges

Bateman, herpes iris of

large lesions of EM with central bulla & marginal vesicle ring

Bateman’s purpura

actinic (solar) purpura

Battle’s sign

skin discoloration over mastoid area of skull; basilar skull fracture

Bazex syndrome

1) AD/XLD; follicular atrophoderma of dorsal hands, abnormal hair & sweat glands, milia, multiple BCC, pili torti, trichorehexis nodosa  AKA Bazex-Dupre-Christol syndrome

2) acquired eczematous & psoriasiform lesions (ear, nose, dorsal hands, feet, knees), nail dystrophy & paronychial inflammation associated with GI or respiratory SCC (100%)  AKA paraneoplastic acrokeratosis

Bean syndrome

AD, sporadic, rare; rubbery cutaneous venous malformations with GI bleeds & hemangiomas, anemia AKA blue rubber bleb nevus syndrome

Beane-Stevenson syndrome

AD, 10q26, FGFR2; cutis gyrata, craniofacial dysostosis

Beau’s lines

transverse depression across nail plate; cytotoxic drugs, dysmenorrhea, MI, post fever, psoriasis

Becker nevus

common, sharply demarcated hyperpigmented hairy patch of shoulder, chest, scapula with underlying smooth muscle hamartoma AKA Becker’s melanosis

Beckwith-Wiedemann syndrome

AD with variable penetrance; sporadic; mid-facial capillary malformation, macroglossia, HSM, omphalocele, gigantism, hemihypertrophy, Wilms’ tumor, adrenal cortical carcinoma, hepatoblastoma  AKA EMG syndrome & exomphalos-macroglossia-gigantism syndrome

Bednar tumor

pigmented dermatofibrosarcoma protuberans

Behçet’s disease

recurrent oral aphthous ulcers >/= 3 times in past year plus 2 of 4 of the following: recurrent genital ulcers, retinal vasculitis and/or posterior uveitis, EN-like or acneform lesions, + pathergy test.   May also include arthritis, cutaneous pustular vasculitis, intestinal inflammation, meningoencephalitis, thrombophlebitis.

benign familial pemphigus

AKA Hailey-Hailey disease

Bezold sign

inflammatory edema below apex of mastoid process; mastoiditis

BIDS syndrome

brittle hair, intellectual impairment, decreased fertility, short stature

Biederman’s sign

dark red color of anterior pillars of throat; syphilitics (some)

Bier spots

light macules on arms & legs of young adults; benign physiologic vascular anomaly

Biette’s collarette

thin white ring of scales on papule surface; secondary syphilis

biotin dependent carboxylase deficiency

CNS disease; alopecia, ataxia, Candida dermatitis, decreased IgA, defective T cells, keratoconjunctivitis, seizures

biotinidase deficiency

AR; deficiency causes multiple carboxylase deficiency

bird-headed dwarfism

Seckel syndrome

Birt-Hogg-Dube syndrome

AD: achrochordons, fibrofolliculomas (>5 of the ear, forehead, nose, temporal region) and trichodiscomas.  Associated with renal cell carcinoma, pulmonary cysts & spontaneous pneumothoraces.

Bjornstad’s syndrome

AR; pili torti & sensorineural deafness

Blaschko lines

linear distribution pattern of skin disease; chest-arcs, abdomen S-shape, mid back V-shape.  Seen in: acquired dermal melanosis, angioma serpiginosum, ash leaf macules (segmental), CHILD syndrome, chondrodysplasia punctata, Delleman-Oorthuys syndrome, focal dermal hypoplasia (Goltz’s syndrome), hypomelanosis of Ito, ILVEN, incontinentia pigmenti, incontinentia pigmenti achromians, lichen striatus, linear & whorled nevoid hypermelanosis, linear Darier’s disease, linear epidermal nevus, linear lichen planus, linear melanocytic nevi, linear nevus sebaceous, linear porokeratosis, linear psoriasis, linear scleroderma, McCune-Albright syndrome, mosaic EHK, nevoid telangiectasia, nevus comedonicus, nevus depigmentosus, Proteus syndrome, Schimmelpenning-Feverstein-Mims syndrome, vitiligo (segmental)

Blaschko lines, x-linked

CHILD syndrome, Conradi-Hunermann syndrome, focal dermal hypoplasia, hypohidrotic ectodermal dysplasia, incontinentia pigmenti, Menkes’ kinky hair syndrome, orofacial-digital syndrome, Partington’s syndrome

blastomycosis, North American

Gilchrist’s disease

blind loop syndrome

bowel bypass syndrome

Bloch-Sulzberger syndrome

XLD (Xq28/Xp11) male lethal, gnee IKBKG NEMO protein modulator of NFKbeta signaling; cutaneous, ocular, CNS & skeletal abnormalities AKA incontinentia pigmenti  Stages 1) vesicobullous in Blaschko lines, 2) verrucous papules, 3) hyperpigmentation, 4 ) hypopigmentation AKA incontinentia pigmenti

Bloom syndrome

AR, 15q26; photodistributed erythema with telangiectasia, chelitis, café-au-lait, craniofacial abnormalities, growth retardation, hypogonadism, leukemia, lymphoma, breast cancer, GI adenocarcinoma  AKA congenital telangiectatic erythema

blue rubber bleb nevus syndrome

AD, sporadic, rare; rubbery cutaneous venous malformations with GI bleeds & hemangiomas, anemia AKA Bean syndrome

Borsieri’s sign

fingernail drawn along skin produces white demarcation line which quickly turns red; scarlet fever (early)

Bourneville syndrome, Bourneville-Pringle syndrome

AD; defects in genes TSC1 (9q34 codes for hamartin) and TSC2 (16p13.3 codes for tuberin); adenoma sebaceum, brain hamartomas, café-au-lait spots, cardiac rhabdomyomas, MR, seizures, shagreen patches, subungual fibromas, vitiligo AKA tuberous sclerosis, epiloia (epilepsy, low intelligence, adenoma sebaceum)

bowel bypass syndrome

(20%) post jejunal bypass; malaise, myalgia, polyarthralgia, rash, sterile skin pustules

Bowen disease

SCC in situ

Brachmann-de Lange syndrome

AKA de Lange syndrome

Brill-Zinsser disease

recurrent epidemic typhus (Rickettsia prowazeki) AKA Brill disease

Brocq, pseudopelade of

end-stage scarring alopecia caused by favus, LE, LP, sarcoidosis, scarring folliculitis, scleroderma

Brooke-Fordyce

hereditary benign cystic epitheliomas, multiple trichoepitheliomas

Brooke-Spiegler syndrome

AD; multiple trichoepitheliomas & cylindromas

Brunauer-Fuhs-Siemens PPK

AD; mild PPK AKA striate PPK, Wachters PPK, keratosis palmoplantaris varians

Brunsting-Perry pemphigoid

similar to cicatricial pemphigoid with predominant head & neck scarring involvement

Buckley syndrome

hyperimmunoglobulin E syndrome with asthma & coarse facial features

Buerger disease

thromboangiitis obliterans

burning feet syndrome

Goplans’ disease

Burns syndrome

KID syndrome

Buruli ulcer

Mycobacterium ulcerans skin ulcer AKA Bairnsdale ulcer

Buschke-Fischer-Brauer disease

AD: PPK (punctate palmoplantar keratoderma) with nail defects AKA Buschke-Fisher keratoma disseminata

Buschke-Lowenstein tumors

dysplastic genital warts

Buschke-Ollendorff syndrome

AD; dermatofibrosis lenticularis disseminata, elastin nevi, osteopoikilosis

Bywater lesions

digital pulp papules (leukocytoclastic vasculitis) found in autoimmune diseases, especially RA

Calabar swellings

localized angioedema from adult worm migration through subcutis, usually around joints: loiasis

Campbell-DeMorgan spots

cherry angioma (senile angioma)

Canon disease

white sponge nevus

Cantu syndrome

AD; generalized hypetrichosis with macrosomia brown macules on face, forearms, feet with hyperkeratosis of palms & soles

carbon baby syndrome

rare; hyperpigmentation progressing from groin & face to entire skin surface birth-2 ½ years AKA universal acquired melanosis

carcinoid syndrome

pronounced flushing, with wheezing, diarrhea, abdominal pain; carcinoid cancer of bowel, bronchus, pancreas, thyroid, teratomas

cardio-facio-cutaneous syndrome

acanthosis nigricans, abnormal facies, CALMs, cardiac anomalies, curly hair, dysplastic nevi, eczema, follicular hyperkeratosis, growth retardation, hemangiomas, ichthyotic changes, KP, MR,  palmoplantar hyperkeratosis (occasional), seborrheic dermatitis, splenomegaly, syringocytadenoma papilliferum

Caripito itch

irritating setae of genus Hylesia caterpillar AKA butterfly itch, moth dermatitis

Carney syndrome/Carney complex

PRKAR1A protein kinase regulatory gene; lentigines, myxomas (cardiac, skin, breast), endocrine abnormalities AKA LAMB syndrome, NAME syndrome

Carrion’s disease

Oroya fever

Casal’s necklace

broad band of dermatosis around neck; pellagra (niacin deficiency)

Castleman’s disease

lymphoproliferative disorder presenting as isolated mediastinal mass or solitary cutaneous tumor AKA angiofollicular lymphoid hyperplasia

Plasma cell variant associated with HHV-8

Chadwick’s sign

dark blue or purple color of vaginal mucosa; pregnancy

Chagas’ disease, Chagas-Cruz disease

American trypanosomiasis, Trypanosoma cruzi, reduviid bug (vector) erythematous nodule (chagoma), at bite site, high fever, unilateral facial & eyelid edema (Romana sign) regional LAD, HSM & meningoencephalic irritation

Chanarin-Dorfman syndrome

AR; disordered lipid metabolism, erythroderma, fine white scaling & lichenification over dorsal hands, myopathy, vacuolated leukocytes; increased in Middle Eastern or Mediterranean descent AKA neutral lipid storage disease

chancriform syndrome

nodule/chancre on distal extremity with chain of nodules extending proximally; sporotrichosis

Chediak-Higashi syndrome

AR lethal: 1q42-1843; LYST gene (lysosomal trafficking); oculocutaneous albinism, absent elastase, bleeding diathesis, increased cAMP, decreased cGMP, poor melanosome transport, ecchymoses, gray hair, leukocyte deficiencies (chemotaxis, adherence, killing, deformability), lymphoma, HSM, giant lysosomal granules, histiocytic infiltration of organs, pancytopenia, pigmented nevi, pulmonary pyogenic infections

CHILD syndrome

XLD (most are 3b-hydroxysteroid dehydrogenase and less are 3b-hydroxysteroid delta8, delta7-isomerase); emopamil binding protein; congenital hemidysplasia with ichthyosiform erythroderma & ipsilateral limb defects.  Also; stippled epiphyses, ipsilateral alopecia, organ hypoplasia

CHIME syndrome

coloboma, heart defects, ichthyosiform dermatosis, mental retardation & ear anomalies AKA Zunich-Kaye syndrome

chondrodysplasia punctata

AKA Conradi-Hunermann syndrome

Christ-Siemens-Touraine syndrome

XLR, ectodysplasin gene; anodontia, cataracts, frontal bossing, MR, pseudorhagades, saddle nose, sebaceous gland hyperplasia, sparse dry hair, thickened lips, thin brittle nails AKA anhidrotic ectodermal dysplasia

chronic granulomatous disease

XLR, AR, AD, cytochrome B NADPH-oxidase complex burst; cutaneous/systemic pyogenic infections, defective oxidative metabolism of neutrophils and monocytes: leads to abscesses, acne (severe), diarrhea, FTT, furuncles, hidradenitis suppurativa, infections, paronychia (chronic), perirectal ulcerative stomatitis  Test: nitroblue reduction assay

Churg-Strauss syndrome

rare-vasculitis with asthma, peripheral eosinophilia & recurrent pneumonia, granulomas, musculoskeletal symptoms, neuropathy, purpura of extremities P-ANCA + in 25-70%, titers can be followed for monitoring disease activity   AKA allergic granulomatous angiitis

Clark nevus

dysplastic melanocytic nevi

Clouston syndrome

AD, connexin 30 mutation (gap junction protein); alopecia, cataracts, nail dystrophy & clubbing, MR (some), palmoplantar hyperkeratosis, seizures (some), xerosis, French Canadians AKA hidrotic ectodermal dysplasia

Coat disease

retinal telangiectasias & occasional skin telangiectasias

Cobb syndrome

sporadic; dermatomal capillary malformation over spinal vascular malformation, angiokeratoma circumscriptum AKA cutaneomeningospinal angiomatosis

Cockayne syndrome

AR; ERCC-3, ERCC-6 defect; XPB DNA helicase; aged appearance, cachexia, cataracts, early death, growth arrest, microcephaly, neurological deterioration, photodistributed erythema, subcutaneous fat loss

Cockayne-Touraine

dominant dystrophic epidermolysis bullosa

Coffin-Siris syndrome

AD, ?AR; absent fingernails & toenails, bushy eyebrows, coarse facies, hypertrichosis, lax joints, low nasal bridge, microcephaly, MR, sparse scalp hair

common variable immunodeficiency syndrome

late onset decreased immunoglobulins IgA, IgG, IgM; autoimmune diseases, alopecia areata, chronic giardiasis, eczema, recurrent otitis media, Trichophyton rubrum, URI infections, vitiligo

congenital self-healing reticulohistiocytosis

Hashimoto-Pritzker disease

congenital telangiectatic erythema

Bloom syndrome

congenital total lipodystrophy

Lawrence-Seip syndrome

congenital varicella syndrome

chorioretinitis, cortical atrophy, cutaneous scars, limb hypoplasia

Conradi-Hunermann syndrome

XLD, male lethal; lanosterol to cholesterol conversion; 3b-hydroxysteroid delta8, delta7-isomerase); emopamil binding protein (same defect as CHILD s.): ichthyosiform erythroderma in Blaschko’s lines, cataracts & asymmetric limb defects AKA chondrodysplasia punctata

Consular disease

gnathostomiasis

contact urticaria syndrome

stage 1; localized urticaria restricted to the area of contact

stage 2; generalized urticaria, including angioedema

stage 3; urticaria associated with bronchial asthma

stage 4; urticaria associated with anaphylactic reactions

COPS syndrome

calcinosis cutis, osteoma cutis, poikiloderma & skeletal abnormalities

Cornelia de Lange syndrome

de Lange syndrome

Corrigan sign

purple line at junction of teeth & gum; chronic copper poisoning

Coulomb, pseudoscars of

stellate scars of the hands

Cowden syndrome, Cowden disease

AD; PTEN tumor suppressor gene; achrochordons, angioid streaks, angiolipomas, arched palate, breast & thyroid cancer, caries, craniomegaly (80%), fissured tongue, GI hamartomatous polyps, GU cysts, myopia, oral papillomatosis, palmoplantar keratoses, tricholemmomas   AKA multiple hamartoma syndrome

craniofacial dysostosis

Crouzon’s disease

CREST syndrome

calcinosis cutis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia

cri du chat syndrome

partial 5p deletion; high-pitch cry, hypertelorism, microcephaly, MR, preauricular achrochordons, premature hair graying, simian crease

Crocker, dermatitis repens of

acrodermatitis continua (Hallopeau)

Cronkhite-Canada syndrome

alopecia, diffuse palmar hyperpigmentation, spotty hypopigmentation of dorsal hands, nail dystrophy, GI polyposis & adenocarcinoma (15%), malabsorption with hypoproteinemia, electrolyte disturbance

Cross-McKusick-Breen syndrome

AR; oculocutaneous albinism, gingival hypertrophy, microphthalmus, small opaque corneas, oligophrenia with spasticity, high arched palate & scoliosis  AKA oculocerebral-hypopigmentation syndrome, Cross syndrome

Crouzon’s disease

AD, 10q26; craniofacial dysostosis

Crowe sign

café-au-lait macules of axillae (axillary freckling); neurofibromatosis

Crow-Fukase syndrome

POEMS syndrome

Cullen’s sign

blue periumbilical discoloration; acute pancreatic blood extravasation

Curth & Macklin, ichthyosis hystrix of

AD, very rare, mutation in K1; resembles EHK with variable involvement, porcupine-like or verrucous hyperkeratosis

Cushing syndrome

excessive glucocorticoids; characteristic habitus, cutis marmorata, easy bruising, ecchymoses, impaired wound healing, petechiae, striae, transparent epidermis, thinned dermis

cutis marmorata telangiectatica congenita

sporadic; atrophic reticulated vascular patch, ipsilateral hemiatrophy/hypertrophy, glaucoma, MR