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boards’ fodder Eponyms in Dermatology by Heather Kiraly Orkwis, DO. (Updated July 2015*) Aleppo/Baghdad/Delhi boil = Conradi-Hünermann syndrome Hutchinson’s sign = pigmenta- lesion of cutaneous leishmaniasis = XLD chondrodysplasia punctata (EBP tion of proximal nail fold, suggestive of gene) melanoma Asboe-Hansen sign = extension of intact blister when pressure is applied to Crowe’s sign = axillary or inguinal Janeway lesions = non-painful roof; seen in pemphigus vulgaris freckling seen in neurofibromatosis hemorrhagic macules or nodules of palms and soles, seen in infective Auspitz’s sign = punctate bleeding Darier disease = Keratosis follicu- endocarditis points within lesion upon scratching; laris (ATP2A2) seen in psoriasis Kasabach-Merritt syndrome = Darier’s sign = urtication following consumptive coagulopathy within a Bateman purpura = actinic (solar) rubbing of macule/papule in mastocyto- kaposiform hemangioendothelioma or purpura sis (urticaria pigmentosa) tufted angioma Bazex syndrome, acquired = Dennie-Morgan lines = crescentic Klippel-Trenaunay syndrome acrokeratosis paraneoplastica creases of lower eyelids due to stagna- = angio-osteohypertrophy syndrome; Bazex syndrome (Bazex–Du- tion of venous blood, seen in atopic port-wine stain, soft tissue and bony pré–Christol Syndrome), XLD = dermatitis hypertrophy, venous and lymphatic malformations follicular atrophoderma, multiple BCCs, Degos’ disease = malignant atrophic hypotrichosis, localized hypohidrosis papulosis Koplik’s spots = small, white spots on erythematous buccal mucosa, seen Bazin’s disease = erythema indura- Dercum disease = adiposis dolo- in early measles tum, associated with TB rosa; mostly obese menopausal women, Becker nevus/melanosis = large, consisting of multiple exquisitely tender Kveim-Sitzbach test = skin test unilateral hyperpigmented patch, with lipomas with human sarcoid tissue injected into a secondary hypetrichosis often hairy on patient suspected of having sarcoidosis; Favre-Racouchot = open comedo- upper extremity or chest positive results are a sarcoid granuloma nes and solar elastosis at the site Beckwith-Wiedemann syndrome Gianotti-Crosti syndrome = papu- = exomphalos-macroglossia-gigantism Kyrle’s disease = chronic general- lar acrodermatitis of childhood syndrome (p57/KIP2) ized dermatosis with papules with central Goltz syndrome = focal dermal keratotic plugs (DM, renal disease) Behcet’s disease = triad of apthous ulcers, genital ulcers, ocular inflamma- hypoplasia (PORCN) Leser-Trélat sign = abrupt onset of tion (+HLA-B51; Silk Road Disease) Gorlin syndrome = nevoid basal cell multiple seborrheic keratoses, associ- ated with internal malignancy Bloch-Sulzberger disease =iIn- carcinoma syndrome (patched-1) continentia Pigmenti (NEMO; X-linked Gottron’s papules = erythematous Lichtenberg’s figures = branching dominant) eruption over knuckles, elbows, knees, pattern of cutaneous marks pathogno- monic for lightning injury Bockhart’s impetigo = follicular seen in dermatomyositis impetigo Graham-Little-Piccardi-Lasseur Lofgren syndrome = erythema syndrome = variant of LPP: cicatricial nodosum, bihilar lymphadenopathy Bourneville’s disease = Tuberous (sarcoidosis) Sclerosis (Epiloia) (TSC1, TSC2) alopecia of scalp, non-scarring alopecia of axilla and groin, follicular lichen planus Louis-Bar syndrome = ataxia telan- Bowen’s disease = squamous cell eruption giectasia mutated (ATM) gene carcinoma in situ Grover’s disease = transient acan- Lovibond’s angle = 160° angle Buruli ulcer = M. ulcerans (named tholytic dermatosis between proximal nail fold and the nail after Buruli region of Nile River, Africa) Hailey-Hailey disease = familial plate Buschke-Lowenstein tumor = benign pemphigus (ATP2C1) Lyell’s syndrome = toxic epidermal verrucous carcinoma of glans penis and necrolysis (TEN) prepuce (HPV 6, 11) Heck’s disease = oral focal epithelial hyperplasia (HPV 13, 32) Madelung’s disease = benign sym- Buschke-Ollendorff syndrome = metric lipomatosis (Launois-Bensuade dermatofibrosis lenticularis disseminata, Griscelli syndrome = pigmentary syndrome, horse-collar appearance) osteopoikilosis (LEMD3) dilution, T- and B-cell immunodeficiency, recurrent infection, progressive CNS Maffucci syndrome = superficial Calabar swellings = localized an- deterioration (myosin VA) gioedema in tissue from migrating loiasis and deep venous malformations, en- chondromas, chondrosarcoma (PTHR1) Hermansky-Pudlak syndrome Carney Complex = NAME syn- = pigment dilution, bleeding diathesis, drome, LAMB syndrome (PRKAR1A) Majocchi’s disease = purpura an- Heather Orkwis, DO, is lysosomal membrane defect (HPS1) nularis telangiectoides a PGY4 dermatology Carvajal syndrome = left sided car- Howel-Evans syndrome = diomyopathy, woolly hair, keratoderma Majocchi granuloma = deep der- non-transgradiens PPK, esophageal resident at St. Joseph (desmoplakin) matophyte infection of hair follicle Mercy Hospital in Ann carcinoma (TOC) Cobb syndrome = cutaneomeningo- Mal de Meleda = keratoderma pal- Arbor, Michigan. Hughes’ triad = antiphosholipid an- spinal angiomatosis moplantaris transgrediens (SLURP1) tibody syndrome (fetal loss, thrombosis, Civatte bodies = degenerated, thrombocytopenia) Marfan syndrome = tall stature, apoptotic keratinocytes seen in lichen arachno-dactyly, ectopia lentis, progres- planus Hutchinson-Gilford syndrome = sive aneurysmal dilation of ascending progeria (lamin A) aorta, CHF (fibrillin 1) irectionsin D Residency p. 1 • Fall 2012 boards’ fodder Eponyms in Dermatology by Heather Kiraly Orkwis, DO. (Updated July 2015*) Marjolin’s ulcer = aggressive SCC Ollendorf’s sign = secondary Shulman’s syndrome = eosino- arising in site of chronic injury or burn syphilis papule tender to touch with blunt philic fasciitis (dry river bed) probe McCune-Albright Syndrome = Sjögren-Larsson syndrome = Albright syndrome; “Coast of Maine” Osler-Weber-Rendu syndrome = ichthyosis with erythroderma, spastic café-au-lait macule(s), polyostotic fibrous Hereditary Hemorrhagic Telangiectasia di-tetraplegia with scissor gait, mental dysplasia, precocious puberty (GNAS1) syndrome (HHT1, HHT2) retardation, atypical retinitis pigmentosa (FALDH) Milroy’s disease = congenital lower Papillon-Lefèvre syndrome = pal- limb lymphedema (FLT4) moplantar keratoderma with periodonto- Sneddon’s syndrome = livedo sis (cathepsin C) reticularis, HTN, CVA associated with Montgomery syndrome = xan- antiphospholipid antibodies thoma disseminatum Parry-Romberg syndrome = acquired progressive hemifacial atrophy Sturge-Weber syndrome =enceph- Mucha Habermann disease = (morphea variant) alotrigeminal angiomatosis pityriasis lichenoides et varioliformis acuta (PLEVA) Refsum syndrome = phytanic acid Tyndall effect = blue tinging of storage disease (PAHX, PEX7) subcutaneous lesions due to short wave- Muckle-Wells syndrome = length colors (blue/violet) scattering recurrent fevers and urticaria, progres- Richner-Hanhart syndrome = sive deafness, secondary amyloidosis Tyrosinemia type II (tyrosinase amino- Urbach-Wiethe disease = lipoid (cryopyrin) transferase) proteinosis (ECM1) Muir-Torre syndrome = DNA mis- Ritter’s disease = staphylococcal Vohwinkel syndrome = PPK mu- match repair defect, sebaceous tumors, scalded skin syndrome tilans, keratoderma hereditaria mutilans adenocarci-noma of the colon (MLH1, (connexin 26, loricrin) MSH2) Russell’s sign = dorsal hand with dry skin and calluses, seen with bulimia/ Von Recklinghausen disease = Naxos disease = right sided cardio- purging neurofibromatosis I (neurofibromin) myopathy, woolly hair, non-epidermolytic PPK (plakoglobin) Schnitzler’s syndrome = nonpru- Well’s syndrome = eosinophilic ritic urticaria, arthralgias, IgM monoclonal cellulitis, ‘flame figures’ on dermatopa- Netherton syndrome = ichthyosis protein thology linearis circumflexa (SPINK5) Senear-Usher syndrome = Zinsser-Engman-Cole syndrome Nikolsky’s sign = normal epidermis pemphigus erythematosus; variant of P. = Dyskeratosis Congenita (dyskerin) easily separated when pressed firmly foliaceous confined to seborrheic sites with a sliding motion, seen in pemphigus vulgaris, staphylococcal scalded skin Sezary syndrome = generalized syndrome exfoliative erythroderma (part of CTCL) References 1. Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. 3rd ed. China: Elsevier publishing; 2012. 2. Spitz JL. Genodermatoses: A clinical guide to genetic skin disorders. Philadelphia, Pa: Lippincott Williams & Wilkins; 2005. *Reviewed and updated July 2015 by: Alina Goldenberg, MD, Emily deGolian, MD, Elise Herro, MD, and Sharon Jacob, MD. irectionsin www.aad.org/DIR Fall 2012 • p. 2 D Residency.
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  • MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature

    MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature

    J M Wit and others Genetics of short stature 174:4 R145–R173 Review MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature 1 1 2 2 Jan M Wit , Wilma Oostdijk , Monique Losekoot , Hermine A van Duyvenvoorde , Correspondence Claudia A L Ruivenkamp2 and Sarina G Kant2 should be addressed to J M Wit Departments of 1Paediatrics and 2Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Email The Netherlands [email protected] Abstract The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature.