Eponyms and Syndromes - D to I

Dabska tumor

AKA endovascular papillary angioendothelioma

Danoff syndrome

AD?; adrenocortical micronodular dysplasia, atrial myxoma, lentigines, spindle cell tumors

Darier disease, Darier-White disease

AD, 12q23-24.1, ATP2A2 encodes SERCA2 (sarcoendoplasmic reticulum Ca+ ATPase isoform 2): disrupted keratin tonofilament-desmosome complex; acrokeratoses, keratotic papules in seborrheic distribution, nail dystrophy, palmar pits  AKA keratosis follicularis

Darier sign

(pathognomonic); firm stroking of pigmented macule leads to mast cell mediator release & edema; AKA urticaria pigmentosa

Davis Colley disease

keratosis punctata palmaris et plantaris

de Lange syndrome

brachycephaly, bushy eyebrows, carp mouth, coarse hair, depressed nose bridge, dwarfism, irregular teeth, low set ears, MR, short arms, simian crease, synophrys, webbed neck.  AKA Brachmann de Lange syndrome, Cornelia de Lange syndrome

DeBarsy syndrome

cataracts, corneal opacities, ear dysplasia, growth retardation, joint hypermobility, microcephaly, MR, progeroid facies, pronounced nasolabial fold, skin wrinkling

Degos acanthoma

benign epidermal tumor with glycogen containing epidermal cells AKA clear cell acanthoma

Degos syndrome

multisystem lymphocytic vasculitis CNS & GI involvement AKA malignant atrophic papulosis

Delleman-Oorthuys syndrome

sporadic; accessory skin appendages, CNS defects, cutis aplasia, ocular defects

delusion of parasitosis

Ekbom disease

Dennie-Morgan lines

accentuated folds of lower eyelid; atopic patients (non-diagnostic)

Dercum disease

multiple painful lipomas;  AKA adiposis dolorosa

dermatitis exfoliativa neonatorum

Ritter’s d., Staphylococcal scalded skin syndrome

dermatomyositis

Wagner-Unverricht disease

Desmons syndrome

keratitis, ichthyosis, deafness AKA KID syndrome, Senter syndrome

DiGeorge syndrome

AD, AR, sporadic; chromosome 22q11.2 zinc finger binding protein; abnormal development of 3^rd & 4^th pharyngeal pouches & deficient cell mediated immunity; abnormal facies, congenital heart defects, decreased T cells, esophageal atresia, severe recurrent candidiasis infections, thymic & parathyroid hypoplasia

disseminated pagetoid reticulosis

Ketron-Goodman disease

Donohue syndrome

absent subcutaneous fat, elfin face, growth retardation, hirsutism, insulin resistance, increased mortality, thickened skin AKA leprechaunism

Dowling-Degos disease/syndrome

AD; brownish reticulate macules in flexural areas  AKA reticulate pigmented anomaly of the flexures

Dowling-Meara EBS

epidermolysis bullosa herpetiformis

Down syndrome

trisomy 21; epicanthal fold, flat nose, short phalanges, widened spaces between 1^st  & 2^nd digits of hands & feet, MR

Dubois sign

short 5^th digit; congenital syphilis

Dubokowitz syndrome

broad nasal tip, eczematous lesions in infancy, epicanthal folds, micrognathia, MR, ptosis, sparse scalp hair, subcutaneous tissue diminished

Dukes disease

scarlatinella

Duncan disease

Xq26; abnormal immune response to EBV infection, early death or acquired dysgammaglobulinemia, chronic infectious mononucleosis, malignant lymphoma, T-lymphocyte depletion  AKA X-linked lymphoproliferative disease

Dunnigan syndrome

fat loss of limbs associated with DM AKA acquired partial face-sparing lipodystrophy  AKA Dunnigan-Kobberling syndrome

Dupuytren disease

palmoplantar fibromatosis; dimpled palmar skin over 4^th metacarpal, progressing to contracture

dyskeratosis congenita

XLR/AD, dyskerin; reticular pigmentation progressing to atrophy & telangiectasia, bullous conjunctivitis, esophageal strictures, leukoplakia (mucous membranes), mental deficiency, nail dystrophy, palmoplantar hyperkeratosis & hyperhidrosis, pancytopenia, skeletal disorders, thrombocytopenia  AKA Zinsser-Cole-Engman syndrome

dysplastic nevus syndrome

dysplastic nevi in patient at risk for familial or nonfamilial malignant melanoma

EEC syndrome

AD; ectodermal dysplasia with ectrodactyly, cleft lip/palate.  Also; blepharitis, lobster claw deformity, mental retardation, speckled irides

Ehlers-Danlos syndrome

table here

Ekbom disease

delusion of parasitosis

Elejalde syndrome

AR; bronze skin after sun exposure, CNS dysfunction, hypotonia, MR, seizures, silver hair

Elliot sign

induration of edge of syphilitic skin lesion

EMG syndrome

exomphalos, macroglossia, gigantism AKA Beckwith-Wiedemann syndrome

Enroth sign

abnormal fullness of eyelids; Graves’ disease

eosinophilic cellulitis

Well’s syndrome

eosinophilic fasciitis

Schulman’s syndrome

epidermal nevus syndrome

sporadic; ILVEN; café-au-lait macules, epidermal nevi, hemangiomas, kyphoscoliosis, limb deformities, lipodermoid tumors, MR, seizures AKA Schimmelpenning syndrome, Solomon syndrome

Epstein pearls

milia in oral cavity (palate) usually in infants

erythema multiforme major

Stevens-Johnson syndrome

erythema multiforme minor

Hebra’s disease

erythrokeratoderma viriabilis

Mendes de Costa syndrome

erythroplasia of Queyrat

SCC of glans penis

erythropoietic porphyria

Gunther disease

exomphalos-macroglossia-gigantism syndrome

AKA Beckwith-Wiedemann syndrome, EMG syndrome

Fabry disease

XLR; storage disease of glycosphingolipid catabolism, deficiency of a-galactosidase A leading to accumulated ceramide trihexoside in CV & renal systems; telangiectases in bathing suit distribution, corneal opacities, burning pain of palms, soles & abdomen; leg edema, osteoporosis, retarded growth, delayed puberty  AKA angiokeratoma corporis diffusum

familial atypical multiple mole melanoma syndrome

dysplastic nevi with GI & pancreatic malignancy AKA FAMMM syndrome

familial dysautonomia

Riley-Day syndrome

familial dyskeratotic comedones

AD; widespread comedonal lesions on extremities

familial Mediterranean fever

AR, ch. 16, RT70, deficiency of inhibition of C5a; AA amyloid, fever, peritonitis, pleurisy, purpura, renal amyloidosis, synovitis, urticaria, vasculitis nodules

FAMMM syndrome

familial atypical multiple mole melanoma syndrome

Fanconi syndrome

absent radius or thumb, acidosis, aminoaciduria, flexion deformities, FTT, generalized ichthyosis,  glucosuria, hypouricemia, hypokalemia, retinal hemorrhage, strabismus, vitamin D resistant rickets

Farber disease

AR; acid ceramidase gene defect-accumulation of ceramide; accumulation of lipid in joints & nerves, early death, lipogranulomatosis

Favre-Racouchot disease

open comedones in background of dermatoheliosis on temples AKA nodular elastosis with cysts & comedones

Felty syndrome

anemia, frequent leg ulcers, leukopenia, pigmented lower extremity macules, RA, splenomegaly, thrombocytopenia

Feuerstein & Mims syndrome

epidermal nevus syndrome AKA Schimmelpenning syndrome, Solomon syndrome

fifth d.

erythema infectiosum

Filipovitch sign

yellow discoloration of palms & soles; typhoid fever AKA palmoplantar sign

Finkelstein disease

acute hemorrhagic edema of infancy  AKA Seidlmeyer syndrome

Fisch syndrome

deafness, partial heterochromia, premature graying hair

Fischer-Jacobsen-Clouston syndrome

AD; “drumstick fingers,” growth retardation, hair abnormalities, MR, palmoplantar scaling, thickened nails AKA hidrotic ectodermal dysplasia, PED type X

Fitzpatrick sign

lateral compression produces dimpling; dermatofibroma

Flegel disease

decreased Odland bodies, keratinous papules of calves  AKA hyperkeratosis lenticularis perstans

focal dermal hypoplasia

Goltz syndrome

folliculitis decalvans

Quinquaud’s disease

Fordyce angiokeratoma

small benign blood vessel tumor on scrotum & labia majora

Fordyce condition

benign ectopic sebaceous glands on oral mucosa, genital mucosa, esophagus or larynx

Forscheimer spots

pinpoint rose colored macules & petechiae on soft palate; rubella

fourth disease

Dukes disease

fourth venereal disease

gangrenous & ulcerative balanoposthitis or granuloma inguinale

Fox-Fordyce disease

females (9x); axillae & pubic chronic, pruritic follicular eruption of apocrine glands

Francois syndrome

AR; nodules of hands, nose, ears, osteochondrodystrophy AKA oculomandibulofacial syndrome, dermatochondrocorneal dystrophy

Franceschetti-Jadassohn syndrome

AD, onset >2 years old; heat intolerance, hypohidrosis, palmoplantar hyperkeratosis, reticular hyperpigmentation, yellow teeth

Frey syndrome

auriculotemporal syndrome; gustatory sweating in malar area following parotid gland damage

Futcher line

pigmentary demarcation between dorsal & ventral forearm AKA type A lines, Voigt’s lines

Gamborg-Nielson PPK

AD; diffuse glove & stocking keratoderma with constricting digital bands, nail abnormalities, angular chelitis, hyperhidrosis, developmental retardation AKA mal de Meleda

Gardner syndrome

AD, ch. 5, APC gene (cleaves b-catenin); colon polyps progressing to carcinoma, dental anomalies, desmoid tumors, epidermal cysts, fibromas, ocular fundus pigmentation, osteomas, retroperitoneal fibrosis, thyroid cancer  AKA adenomatosis polyposis coli

Gardner-Diamond syndrome

autoerythrocyte sensitivity (thought to be psychogenic); painful bruises & ecchymoses on legs, arms, face, syncope, abdominal pain, vomiting

Gaucher disease

AR; lysosomal storage disease, deficiency of b-glucocerebrosidase, elevated plasma a-phosphatase; Ashkenazi jews, bronze coloration, café-au-lait macules, collodion baby, ichthyosis

Gianotti-Crosti syndrome

young children; HBV, coxsackie A16, EBV, CMV, parainfluenza virus, RSV, group A streptococcal; fever, malaise, HSM, copper red flat topped firm papules; face, extremities & buttocks-progress to plagues & scales AKA acrodermatitis papulosa infantum, infantile papular acrodermatitis, papular acrodermatitis of childhood

Gilchrist disease

North American blastomycosis

Giroux-Barbeau syndrome

AD; erythrokeratoderma with ataxia

glucagonoma syndrome

glucagon-producing pancreatic tumor; dermatitis, necrolytic migratory erythema, anemia, carbohydrate intolerance, hypoaminoacidemia, stomatitis, weight loss

Goldenhar syndrome

Keratin 16, K17 mutation; triad of accessory tragi, auricular fistulas, epibulbar dermoid cysts or lipodermoids.  Also hemifacial microstomia.

Goldstein sign

wide space between first two toes; cretinism, Down syndrome

Goltz syndrome

colobomas, lobster claw deformity, osteopathia striata  AKA focal dermal hypoplasia

Good syndrome

thymoma with acquired hypogammaglobulinemia, recurrent abscesses and pyoderma

Goplans disease

localized hyperhidrosis & painful feet AKA burning feet syndrome

Gorham disease

sporadic; venous malformations, lymphatic malformations, replacement of bone with fibrous tissue

Gorlin syndrome, Gorlin-Goltz syndrome

AD, 9q21, PATCHED gene; bifid ribs, characteristic facies, cysts of mandible & maxilla, early BCCs, eye & reproductive tract abnormalities, intracranial calcification, medulloblastomas, mental retardation, palmoplantar pits  AKA basal cell nevus syndrome

Gorlin sign

ability to touch tip of nose with tongue; Ehlers-Danlos syndrome, normal persons

Gottron papules

inflammatory papules over dorsal hand joints; dermatomyositis

Gottron sign

violaceous erythema over knuckles, elbows, medial malleoli, patella; dermatomyositis (pathognomonic)

Gougerot-Blum syndrome

pigmented purpuric lichenoid dermatitis

Graham-Little syndrome, Graham-Little-Feldman syndrome

cicatricial alopecia with follicular lichen planus of skin & scalp (lichen planopilaris), may be associated with noncicatricial alopecia of axillae & pubic areas AKA Graham-Little-Piccardi-Lassueur syndrome

granuloma multiforme

Mkar disease

granulomatous chelitis

Melkersson’s syndrome, Melkersson-Rosenthal syndrome

Greenblatt sign

linear depression over Poupart’s ligament separating draining lymph nodes; lymphogranuloma venereum  AKA groove sign of Greenblatt

Greither syndrome

palmoplantar keratoderma with transgrediens to dorsal surfaces

Griscelli syndrome

AR, 15q21, mutation in myosin (melanosome transport); absent Langerhan cells, albinism with hypomelanosis, HSM, immune deficiency,  pancytopenia, pyogenic infection, silver hair, thrombocytopenia  AKA hypopigmentation-immunodeficiency disease

Grisolle sign

when skin is stretched, a papule is felt; smallpox (historical)

Grover disease

pruritic erythematous papules typically middle aged or older males on trunk, shoulders, neck, thighs AKA transient acantholytic dermatosis

Gunther disease

AR, 10q25.2-q26; uroporphyrinogen III cosynthetase; early; immediate photosensitivity with burning, edema, erosions  late; mutilating scarring in sun exposed areas, cicatricial alopecia, hypertrichosis, brown teeth, photophobia, hemolytic anemia, splenomegaly AKA erythropoietic porphyria

Haarscheibe receptor

receptor associated with Merkel cells AKA Pinkus corpuscle, hederiform ending

Hailey-Hailey disease

AD, defect in tonofilament-desmosome complex; Ca++ dependent ATPase (ATP2C1): recurrent vesicles & bullae in intertriginous areas AKA benign familial pemphigus

Hallermann-Streiff syndrome

dyscephaly, parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia AKA oculomandibulofacial syndrome

Hallopeau, acrodermatitis continua of

sterile pustular eruption of fingers or toes that extends proximally

Hallopeau, pemphigus vegetans of

localized pemphigus vulgaris

Hallopeau-Siemens

generalized recessive dystrophic epidermolysis bullosa

Hand-Schòller-Christian disease

Triad: diabetes insipidis, bony defects, exophthalmos.  Also, nodular skin lesions, otitis media AKA Chronic multifocal Langerhan cell histiocytosis

Hansen disease

leprosy

harlequin syndrome

unilateral facial flushing & sweating, lung carcinoma Pancoast syndrome, Horner syndrome

Hartnup disease

AR, 2pter-q32.3, defective amino acid transport; photodistributed erythema, scale, ataxia, psychiatric disturbances, aminoaciduria, stomatitis

Hashimoto-Pritzker disease

congenital self-healing reticulohistiocytosis

Hatchcock sign

tenderness elicited when running finger toward angle of jaw; mumps

Hebra disease

erythema multiforme (minor)

Heck syndrome

focal epithelial hyperplasia; mucosal HPV (HPV-13), primarily in native American children

Heerfordt syndrome

anterior uveitis, chronic sarcoid, facial nerve palsy, fever, parotid gland enlargement AKA Heerfordt-Waldenstrom syndrome

Heller, median canaliform dystrophy of

split midline nail with fir tree-like appearance, especially of thumbs

hemochromatosis

AR, ch6, or acquired (homozygous C282Y, H63D); deposition of hemosiderin in parenchymal cells, causing bronze skin pigmentation, dysfunction of liver, pancreas, heart, pituitary, arthropathy, diabetes, cirrhosis, HSM, hypogonadism, loss of body hair 

hepatolenticular degeneration

Wilson’s disease

hereditary hemorrhagic telangiectasia

Osler-Weber-Rendu syndrome

hereditary painful callosity syndrome

PPK with oral mucosa hyperkeratosis

heredopathia atactica polyneuritiformis

Refsum’s disease

Herlitz variant

junctional epidermolysis bullosa AKA JEB-gravis, JEB-lethal

Hermansky-Pudlak syndrome

AR defect in HPS1 (tyrosinase + albinism); pigment dilution, nevi, SK, SCC, BCC, ecchymoses, petechiae, cream colored hair & skin, photophobia, strabismus, hemorrhage, granulomatous colitis, cardiomyopathy, melanin macroglobules

Hertogh sign

lateral thinning of eyebrow hair; atopic dermatitis, hypothyroidism

see Jarisch-Herxheimer reaction

Heubner arteritis

endarteritis of medium & large arteries resulting in thrombotic infarction; syphilis

HID syndrome

sporadic; AKA hystrix-like ichthyosis with deafness

hidrotic ectodermal dysplasia

Clouston’s syndrome

Higoumenakis sign

unilateral irregularly enlarged medial clavicle (non-specific); late congenital syphilis

Hines & Bannick syndrome

hyperhidrosis & hypothermia associated with diencephalic epilepsy or hypothalamic storm

Hippocratic nail

onychogryphosis AKA Osler’s toe, ram’s horn nail

Hoffman-Zurhelle syndrome

nevus lipomatosis cutaneous superficialis

Hoigne reaction

psychotic symptoms secondary to procaine in procaine penicillin, pseudo-anaphylactic reaction; syphilis

Holmes-Adie syndrome with anhidrosis

progressive segmental anhidrosis with tonic pupils AKA Ross syndrome

homocystinuria

AR or non-genetic; defect of cystathione synthetase; developmental delay, failure to thrive, neurologic abnormalities, hematologic abnormalities

Hopf, acrokeratosis verruciformis of

AD; small warty papules on extensor surfaces with punctate keratoses of palm

Hori nevus

acquired circumscribed dermal melanocytosis of the face

Howel-Evans syndrome

AD; 17q23 (envoplakin): palmoplantar keratoderma (tylosis) ages 5-15, later esophageal cancer

Hunt syndrome

Ramsay-Hunt syndrome

Hunter syndrome

XLR; mucopolysaccharidosis (MPSII); deficiency of iduronate-2-sulfatase; pebbled scapular skin; similar to Hurler syndrome

Huriez syndrome

AD; mild keratoderma with scleroatrophy & sclerodactyly, nail changes; SCCs of dorsal hand

Hurler syndrome

AR; mucopolysaccharidosis, deficiency of L-iduronidase; Mongolian spots, thick hyperpigmented inelastic skin, corneal clouding, vacuolated lymphocytes, death by age 10 if not given bone marrow transplant

Hutchinson freckle

large lentigo with grossly irregular borders; may progress to lentigo maligna melanoma

Hutchinson-Gilford syndrome

progeria; atherosclerosis, alopecia, atrophy of skin & muscle, dwarfism, early death

Hutchinson prurigo

actinic prurigo

Hutchinson sign

diffusion of pigment from proximal nail matrix; melanoma

Hutchinson teeth

widely spaced small notched upper incisors; congenital syphilis (pathognomonic)

Hutchinson triad

central upper incisor notching, corneal opacities, 8th nerve deafness; congenital syphilis

Huygens effect

condenser of microscope defocused to obtain a partial phase effect

hyalinosis cutis et mucosae

Urbach-Wiethe disease

hyper IgE syndrome

Sporadic/AD; defective neutrophil chemotaxis: chronic mucocutaneous candidiasis, eczema, eosinophilia, fungal infections, incontinentia pigmenti, marked increased IgE, recurrent cutaneous & systemic infections, recurrent pyogenic infections, reversible ichthyosis, urticaria

hypereosinophilic syndrome

eosinophilia & eosinophilic infiltrate of organs

hyperkeratosis lenticularis perstans

Flegel’s disease

hypervitaminosis A syndrome

dry lips & skin, hair loss, sticky skin sensation, extraosseous calcifications, embryotoxic & teratogenic effects from systemic retinoids

hypocomplementemic urticarial vasculitis syndrome

urticarial vasculitis, angioedema, eye inflammation, arthritis/arthralgia, mild renal d., obstructive pulmonary d., serum complement activation with hypocomplementemia, C1q precipitin

hypohidrotic ectodermal dysplasia

AR, similar to Christ-Siemens-Touraine syndrome

hypomelanosis of Ito

AD; guttate & whorled hypopigmentation, conductive hearing loss, ocular abnormalities, MR, seizures, skeletal deformities, female predominant AKA incontinentia pigmenti achromians

IBIDS syndrome

ichthyosis plus BIDS (brittle hair, intellectual impairment, decreased fertility, short stature) AKA Tay’s disease

IFAP syndrome

ichthyosis follicularis with alopecia & photophobia

IgA deficiency syndrome

AR; 1: 600, atopy, asthma, autoantibodies, chronic gastroenteritis, DM, milk allergy, non-tropical sprue, PA, SLE, thyroiditis, URI

IgM deficiency syndrome

1:1000, infections; pneumococci, meningococci, verrucae, eczema, autoimmune features

incontinentia pigmenti

Bloch-Sulzberger syndrome

incontinentia pigmenti achromians

hypomelanosis of ITO

infantile papular acrodermatitis

Gianotti-Crosti syndrome

intestinal lipodystrophy

Whipple’s disease