FAST FACTS FOR BOARD REVIEW Series Editor: William W. Huang, MD, MPH Blistering Diseases in Newborns Dr. Strowd is Assistant Professor of Dermatology, Wake Forest School of Medicine, Winston-Salem, North Carolina. Lindsay C. Strowd, MD The author reports no conflict of interest. Diagnosis Clinical Findings Treatment Notes Infectious Diseases Herpes simplex virus Erythematous macules and Contact isolation, IV antivirals Highest risk of transmission is via (HSV) singular or grouped vesicles (eg, acyclovir), local wound care, active lesions in birth canal; 70% of primarily on the scalp and face; respiratory support, antiepileptics cases caused by HSV-2 infec- disseminated disease with for seizures, ophthalmic ointment tion; mortality rate of disseminated lethargy, fever, poor feeding, neonatal HSV infection >50% and hypotonia Pemphigus Superficial acral blisters and IV penicillin G (50,000 units/kg) Causative organism is Treponema syphiliticus erosions, condyloma lata, whitish every 12 h for 1 wk, pallidum; very rare manifestation plaques, organomegaly, bony wound care of congenital syphilis; acquired abnormalities transplacentally; requires repeat RPR test and CSF analysis until results are negative Staphylococcal Acute onset of erythema of the IV penicillin, clindamycin, Caused by exfoliative toxins of scalded skin face, trunk, and groin followed cephalosporin for MSSA, Staphylococcus aureus; infec- syndrome (SSSS) by superficial flaccid blisters vancomycin for MRSA tion typically stems from mucosal and exfoliation source (eg, oropharynx or nares), therefore lesional cultures are negative for S aureus Varicella Congenital varicella syndrome: Immediate treatment with Congenital varicella syndrome is scarring and/or vesicles in a VZIG, acyclovir (if VZIG is not a rare complication of maternal dermatomal pattern on the trunk, immediately available) exposure to varicella in first 20 wk hypoplasia of the arms and legs, of pregnancy; neonatal varicella microcephaly, ocular abnor- caused by neonatal exposure malities; neonatal varicella: dis- several days before or after delivery seminated vesicles with mucosal involvement Genetic Disorders Bullous congeni- Crops of superficial bullae and Local wound care for blisters, AD inherited defect in keratin 1/10; tal ichthyosiform erosions on the trunk, arms, or keratolytics once verrucous high risk of secondary infection in erythroderma legs with erythema at birth on the lesions present denuded skin trunk, arms, or legs; verrucous skin changes appear at 3 mo Dystrophic Tense blisters in sites of mild Aggressive wound care, minimize AD or AR inherited defect in epidermolysis bullosa trauma as well as widespread skin handling, hospital contact COL7A1, increased risk of SCC erosions, can also involve precautions to avoid infection, FEN in adulthood the gastrointestinal and gas- monitoring, temperature control trourinary tracts Epidermolysis Flaccid blisters and erosions Aggressive wound care, minimize AD inherited defect in bullosa simplex (EBS) in sites of mild trauma skin handling, hospital contact keratin 5/14 (eg, from placement of elec- precautions to avoid infection, FEN trodes or blood pressure cuff), monitoring, temperature control possible mucosal involvement continued on next page Copyright Cutis 2015. 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Cutis® Fast Facts for Board Review (continued) Diagnosis Clinical Findings Treatment Notes Junctional Tense blisters in sites of Aggressive wound care, minimize AR inherited defect in laminins epidermolysis mild trauma as well as on skin handling, contact precautions 5 (alpha 3, beta 3, gamma 2), bullosa (JEB) hands and feet to avoid infection, FEN monitoring, COL7A1, or integrin beta genes, temperature control which determines subtype; subtypes are determined by the specific defect but have similar clinical findings with the exception of JEB with pyloric atresia Kindler syndrome Congenital blistering on acral Local wound care, photoprotection, AR defect in KIND1, which contrib- skin and photosensitivity keratolytics for palmoplantar skin utes to cell adhesion; patients have (improves with age), pigmenta- increased risk of cutaneous SCC tion changes and skin atrophy in adulthood (worse with age); poikiloderma of the face and neck, palmo- plantar hyperkeratosis Ichthyosis bullosa of Skin fragility, blisters mostly on Initially local wound care and hospital AD inherited defect in keratin 2e; Siemens acral skin, diffuse erythema at contact precautions to limit second- tends to have islands of normal birth; blisters replaced by hyper- ary infection; keratolytics and emol- skin within areas of affected skin, keratotic plaques on the arms lients for hyperkeratotic skin somewhat unique to this ichthyosis and legs in early childhood subtype Incontinentia pigmenti Vesicles and blisters at birth Local wound care X-linked dominant defect in IKBKG following the lines of Blaschko; (also called NEMO) blisters evolve into verrucous lesions, then to hyperpigmented and hypopigmented macules later in life Transient bullous Large blisters on the arms Local wound care and prevention AR/AD defect in COL7A1; variant dermolysis of the and legs or areas of friction at of infection of epidermolysis bullosa newborn birth that can result in residual hypopigmentation and milia formation; usually resolves by 1 y of age Metabolic Disease Acrodermatitis Crusted papules, erosions, and Zinc replacement AR inherited defect in SLC39A4 enteropathica pus-filled vesicles around the responsible for zinc absorption; mouth and genitals, fussiness; earlier in formula-fed neonates due appears within weeks of birth to easier absorption of zinc from in bottle-fed neonates, upon human breast milk weaning in breastfed infants Miscellaneous Acral peeling skin Superficial desquamation of skin Minimize friction and heat on acral AR inherited mutation in TGM5; syndrome on the hands and feet, redness, skin, prevent secondary infection often misdiagnosed as EBS; flaccid blisters, itching with antibacterial soap, local exacerbated by heat, humidity, wound care and friction Aplasia cutis Most commonly appears on Local wound care, skin grafting for Idiopathic etiology; can result from congenita the scalp; localized absence of larger defects prenatal methimazole exposure the dermis, possible involvement of subcutaneous tissue and blister formation Copyright Cutis 2015. 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Cutis® Fast Facts for Board Review (continued) Diagnosis Clinical Findings Treatment Notes Bullous mastocytosis Diffuse eruption of tense, Wound care, glucocorticoids, Sporadic KIT mutation; can sometimes hemorrhagic blisters adrenaline, antihistamines, avoidance mimic SSSS that do not result in scarring; of triggers for mast cell degranulation can also present as an ery- thematous macular eruption; involvement of internal organs can cause GI bleeding and cardiovascular collapse Congenital Vesicles and superficial erosions Local wound care, infection prevention Increased risk of postnatal erosive and vesicular on the trunk and acral skin that HSV infection; affected neonates dermatosis heal with reticulated scarring; often are born prematurely alopecia, neurologic and oph- thalmologic complications Erythema toxicum Papules, vesicles, pustules, and Benign, self-limited condition; Incidence increases with neonatorum erythematous macules on the no treatment necessary gestational weight face, trunk, arms, and/or legs that appear within the first 72 h after birth Sucking blister 0.5–2 cm oval blisters on the Self-resolving Thought to be due to neonatal fingers, hands, and distal arms sucking on the affected body part in utero Transient neonatal Vesicles and pustules present Benign, self-limited condition; Most common in black patients pustular melanosis at birth on the arms, legs, trunk, no treatment necessary face, and/or buttocks; vesicles rupture easily resulting in hyper- pigmented macules that remain for several months Abbreviations: IV, intravenous; RPR, rapid plasma reagin; CSF, cerebrospinal fluid; MSSA, methicillin-sensitive Staphylococcus aureus; MRSA, methicillin-resistant Staphylococcus aureus; VZIG, varicella zoster immunoglobulin; AD, autosomal-dominant; AR, autosomal-recessive; FEN, fluid, electrolyte, and nutrition; COL7A1, collagen, type VII, alpha 1; SCC, squamous cell carcinoma; KIND1, kindlerin; IKBKG, NF-κB essential modulator; SLC39A4, solute carrier family 39 (zinc transporter), member 4; TGM5, transglutaminase 5; GI, gastrointestinal; KIT, mast cell growth factor receptor. Copyright Cutis 2015. This page may be reproduced by dermatologists for noncommercial use. Cutis® Fast Facts for Board Review Practice Questions 1. Which congenital blistering condition is caused by a mast cell growth factor receptor (KIT) mutation? a. aplasia cutis congenita b. bullous mastocytosis c. congenital erosive and vesicular dermatosis d. epidermolysis bullosa simplex e. ichthyosis bullosa of Siemens 2. What gene mutation is present in acrodermatitis enteropathica? a. collagen VII b. keratin 2e c. mast cell growth factor receptor d. NF-κB essential modulator e. solute carrier family 39 (zinc transporter), member 4 3. Which congenital blistering disease is associated with an increased risk of squamous cell carcinoma in adult patients? a. aplasia cutis congenita b. bullous mastocytosis c. Kindler syndrome d. pemphigus syphiliticus e. varicella 4. Which congenital blistering condition can be caused by prenatal exposure to methimazole? a. aplasia cutis congenita b. bullous mastocytosis c. dystrophic epidermolysis bullosa d. Kindler syndrome e. pemphigus syphiliticus 5. Which congenital blistering condition is caused by a mutation in transglutaminase 5? a. acral peeling skin syndrome b. aplasia cutis congenita c. bullous mastocytosis d. dystrophic epidermolysis bullosa e. Kindler syndrome Fact sheets and practice questions will be posted monthly. Answers are posted separately on www.cutis.com. Copyright Cutis 2015. This page may be reproduced by dermatologists for noncommercial use..