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Boards' Fodder boards’ fodder Neonatal Ichthyosis by Alyx Rosen, MD and Kate Oberlin, MD Gene Additional Prognosis/ Disease Clinical Presentation Defect Manifestations Outcome Premature delivery; Survival rate Harlequin Thick membrane with deep cracks AR respiratory distress; ~50%; oral ichthyosis and fissures forming plate-like ABCA12 ear deformities; retinoids may help scales, ectropion, eclabium fluid imbalance prolong survival Congenital AR Generalized erythema and fine Heat intolerance; ichthyosiform TGM-1 No improvement scale; collodion membrane at birth; scarring alopecia; erythroderma (CIE) ALOX12B with age involves flexures; nail dystrophy rare ectropion ALOXE3 AR Thick, brown scale involving Lamellar ichthyosis Heat intolerance; No improvement TGM-1 flexural areas and trunk; eclabium, hypernatremia with age ABCA12 ectropion Evolves into Epidermolytic Widespread blistering and Failure to thrive; AD verrucous hyperkeratosis erythema at birth; involves flexures, hypernatremia; K1/K10 hyperkeratotic (EHK); Bullous CIE palmoplantar keratoderma recurrent infections plaques Ichthyosis vulgaris AD Generalized fine, adherent scale Atopic diathesis; Improves with age Filaggrin sparing flexures keratosis pilaris XLR Corneal opacities; Brown “dirty” X-linked ichthyosis Generalized fine scale and Steroid cryptorchidism; scales sparing desquamation at birth sulfatase prolonged labor flexures Trichorrhexis invaginata, ichthyosis Failure to thrive; Pruritus; Netherton AR linearis circumflexa, atopic infections; elevated IgE; eczematous syndrome SPINK5 dermatitis food allergies plaques AR Accumulation of Refsum Skin resembles ichthyosis vulgaris Retinitis pigmentosa; PEX7 phytanic acid; disease with mild scaling cerebellar ataxia PHYH deafness Mental Sjögren-Larsson AR Generalized erythema and scale at Parafoveal glistening retardation, syndrome FALDH birth, then dark scales on trunk white dots on retina seizures and spastic paralysis Kate Oberlin, MD, Conradi- Severe ichthyosiform erythroderma Chondrodysplasia Follicular PGY-3, University of XLD Hünermann-Happle and scale following lines of punctata; cataracts; atrophoderma Miami, department EBP gene of dermatology & syndrome Blaschko deafness; alopecia and scarring cutaneous surgery AD Keratitis, ichthyosis, deafness, Photophobia; Increased risk of KID syndrome GJB2 keratoderma leukonychia cutaneous SCC AR Photosensitivity, ichthyosis, Photosensitivity Trichothiodystrophy Sulfur deficiency in hair; ERCC2 brittle hair “tiger tail”, intellectual decreases with (PIBIDS) diffuse alopecia ERCC3 impairment, decreased fertility, short age Congenital hemidysplasia with Erythema XLR Ipsilateral organ aplasia; CHILD syndrome ichthyosiform erythroderma, limb fades into NSDHL stippled epiphyses defects hyperkeratosis DDx “Collodion Baby”: Lamellar Ichthyosis, Congenital Ichthyosiform Erythroderma (CIE), Netherton syndrome, Harlequin Ich- Alyx Rosen, MD, thyosis, Self-healing collodion baby (SHCB), Trichothiodystrophy (PIBIDS), Sjögren-Larsson syndrome, Infantile Gaucher disease, PGY-4, University of Neutral lipid storage disease with ichthyosis, Hay-Wells syndrome, Conradi-Hünermann-Happle syndrome Miami, department References: of dermatology & 1. Bolognia, Jean, Joseph Jorizzo, and Julie Schaffer. “Chapter 57.”Dermatology. 3rd ed. Philadelphia: Elsevier Saunders, 2012. cutaneous surgery 837-870. Print. 2. Cohen, Bernard. “Chapter 2.” Pediatric Dermatology. 4th ed. Philadelphia: Elsevier Saunders, 2013. 25-39. Print. 3. Schachner, Lawrence, Ronald Hansen. “Chapter 8.” Pediatric Dermatology. 4th ed. Philadelphia: Elsevier Mosby, 2011. 567-643. Print. irinections D Residency p. 4 • Fall 2016 boards’ fodder Neonatal Infectious Dermatoses by Alyx Rosen, MD, and Kate Oberlin, MD Extracutaneous Double the Disease Clinical Presentation Work-Up Treatment Manifestations Boards’ Fodders Macules or papules on palms Maternal and online! IUGR, HSM, osteo- High dose penicillin G and soles, trunk, extremities; neonate serology; Syphilis chondritis, “snuffles” or to prevent late com- also erosions, bullae and pete- darkfield examina- In addition to this rhinitis plications chiae; mucous patches tion issue’s Boards’ Fodder, you can Gram stain or Diffuse red eruption with satellite Topical nystatin, download two new Oral thrush, paronych- KOH reveals Candidiasis red papules and pustules on the ciclopirox, imidazoles, Boards’ Fodder ia, systemic infection pseudohyphae or folds and scrotum PO/IV if septic budding yeast online exclusives from www.aad. Serologic testing Varies depending on timing of Chorioretinitis, hydro- Pyrimethamine with org/Directions. for antigen, PCR, Toxoplasmosis infection; non-specific, diffuse cephalus, deafness, Sulfadiazine and leu- or antibody (IgG, The latest online macules or papules, ecchymosis preterm birth, IUGR covorin IgM) Boards’ Fodders are Sound-alikes Cataracts, congenital Viral cultures of in Dermatology by “Blueberry muffin” macules due heart disease, deaf- pharynx, CSF, Neuroimaging; sup- Rubella to extramedullary hematopoiesis ness, HSM, micro- urine, conjunctiva, portive care Jeffrey Kushner, cephaly rubella antibody DO, and Kristen Whitney, DO; Generalized petechiae or pur- IUGR, deafness, HSM, plus Tropical Viral culture, PCR, Ganciclovir, valganci- CMV pura within 48 hours of birth, thrombocytopenia, Dermatology: antibody testing clovir, foscarnet “blueberry muffin” macules chorioretinitis Bacterial and Viral Infections by Vesicles and papules with rare Mineral oil prep Kristen Whitney, Pruritus, irritability, poor Scabies burrows on the palms, soles, demonstrating Permethrin cream DO. To view, down- feeding trunk and genitalia mite or eggs load, or print every Boards’ Fodder ever published, Thrush, widespread seborrheic Bacterial and viral Serology testing, Zidovudine; anti- HIV check out the dermatitis infections PCR retroviral therapy archives at www.aad.org/ boardsfodder. Grouped vesicles on red base; Ocular and CNS Viral cultures, HSV Intravenous acyclovir diffuse erosions involvement, sepsis PCR, Tzanck prep Cicatricial dermatomal lesions Ocular and CNS Antibody testing, Varicella-zoster immu- Varicella with hypoplasia (congenital); abnormalities PCR, Tzanck prep noglobulin; acyclovir generalized papules (neonatal) Gram stain with Pustules, vesicles or bullae on Rarely complicated by Dicloxacillin or Impetigo Gram-positive an erythematous base in folds sepsis, osteomyelitis cephalexin for a neonatorum cocci in clusters and groin; second week of life and pneumonia 10-day course and neutrophils Staphylococcal Scarlatiniform eruption with Histology (frozen) β-lactamase-resistant Scalded Skin erythroderma in intertrigi- Irritability, fever, skin with granular layer antibiotics; decoloni- Syndrome nous sites; periorificial crust, tenderness, rhinorrhea cleavage; bacterial zation (SSSS) +Nikolsky sign, spares mucosa cultures Abbreviations: HSM=hepatosplenomegaly; CMV=Cytomegalovirus; HSV=Herpes simplex virus; HIV=Human immunodefi- ciency virus; CNS=Central nervous system; IUGR=intrauterine growth restriction DDx of “Blueberry muffin baby”: CMV, varicella, zoster, rubella, toxoplasmosis, langerhans cell histiocytosis, syphilis, leukemia cutis, neuroblastoma, parvovirus, hemolytic anemia, twin-twin transfusion, myelodysplasia, rhabdomyosarcoma, neonatal lupus References: 1. Bolognia, Jean, Joseph Jorizzo, and Julie Schaffer. “Chapters 80-81.” Dermatology. 3rd ed. Philadelphia: Elsevier Saunders, 2012. Page 1321-1366. Print. 2. Cohen, Bernard. “Chapter 2.” Pediatric Dermatology. 4th ed. Philadelphia: Elsevier Saunders, 2013. 25-39. Print. 3. Schachner, Lawrence, Ronald Hansen. “Chapter 6.” Pediatric Dermatology. 4th ed. Philadelphia: Elsevier Mosby, 2011. 299- 373. Print. irinections www.aad.org/DIR Fall 2016 • p. 5 D Residency.
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