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Mariposa Wolford MD

12/12/2011

AM Report

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RG, 53 day old male Transferred from Las Vegas due to severe dermatitis

and FTT

PMHx: born at 39 weeks, via C/S (breech). Nuchalcord. Birth wt 3.35kg.

Stayed in NICU since respiratory distress and

meconium aspiration, had ROS work-up and wasd/cd after 15 days (was intubated and treated forpna/possible sepsis with amp and gent. Also got rashon his chest)

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OSH course Started as erythematous area on chest, then to trunk

and extremities.

Extensive work up at OSH. Seen by GI, Cardiology,

and ophtho.

Also had fever and LP was done and not c/wmeningitis

Treated with Rocephin and Keflex for MSSA bloodculture. Later switched to amikacin and cefepime.

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Course prior to PCMC Seen by dermatology in Las Vegas. Biopsy

thought to be spongiotic dermatitis.

Started on 2.5% hydrocortisone.

Also , slightly high eosinophil count

Still FTT & poor feeding. Admitted again for this.

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Evidence of infection Positive blood cultures on Jan 12 and 14 GPC

Treated with Keflex and Rocephin. Had been

afebrile. Unsure of how long trtmt course was.

Negative bld Cx on Jan 16 and 18, then positiveagain on Jan 20

Skin: switched to triamcinolone x2weeks for rash

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Continued course OSH Left subclavian line placed Jan 21st

First fever on Jan 24th

PCR positive for influenza. Started on Tamiflu andRocephin.

Blood culture from Jan 24th with GNB. Central lineremoved. Echo done, unremarkable.

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Suspected immune problem Normal serum immunoglobulins: IgA 64, IgG 369,

IgM 79.

Jan 25th plts 639K. Mean plt volume enlgd.

Jan 27

th

plts 81K. Seen by ophtho and not thought to have corneal

keratinization.

Cultures came back as MSSA bld and MRSA

from wound. Ear culture grew Citrobacter koseri from Jan 20th

C diff negative Jan 25th. HIV negative.

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Additional w/u prior to PCMC Seen by GI for feeding issues. Poor wt gain

attributed to metabolic demand fromconstant skin sloughing w/ insensiblelosses due to poor barrier of his skin.

Fecal leukocytes, FOBT and fecal elastasewere all nl. CMP wnl. Zinc level wnl.

Feeds supplemented with 20% IL and formulachanged to Elecare 24kcal. Pt still did notgain wt on this regimen.

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At time of admission to PCMC Transferred to PCMC Jan 29th.

Mom stating infant improving with feedings.

On amikacin, cefepime and ofloxacin otic drops.

For skin, off triamcinolone since had skin breakdown.Using vaseline.

Afebrile at first, then temp to 38.2 early am 1/29.

Dermatology consulted here.

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Physical exam on admission Wt 3.49kg (1st%ile) Lngth 53cm (3rd%ile) T 38.2 HR 160 RR 40 BP 93/38 92% RA

GEN: lying supine, upset w/ exam, but calms

HEENT: NCAT, AFOSF, some swelling of eyelids.Yellow purulent discharge in medial aspects ofeyes bilaterally. RR present BL. PERRL. EOMI.Normal appearing sclera. TMs not visualized dueto sloughing skin in ears. MMM. Lips without

scaling, but thickened appearance, non-erythematous skin, no mucosal lesions. Nopharyngeal erythema/exudate.

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NECK: supple and no lymphadenopathy. CV: RRR. Normal S1, S2. gradeI-II/VI systolic

murmur heard best at LSB. No radiation to axillaeor back. CRT 2s centrally.

CHEST: some brth holding, then shallowbreathing. Lungs CTAB with some transmittedupper airway sounds.

ABD: S/NT/ND and no HSM or masses. BS nl

EXTR: No clubbing, cyanosis or edema. GU: nl male, testes descended BL and

circumcised.

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More exam NEURO: CN II-XII grossly intact. Grossly normal

muscle tone & strength. No apparent focal motoror sensory deficits.

SKIN: Scaling, erythematous rash diffusely overentire body. Face and chest most affected w/ Lg

scales of skin flaking off these areas. Extremitieswith blanching erythema. No visible open lesionsor areas of serous weeping.

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Course here at PCMC Tachycardia on admit. NS bolus x1.

LP done. CBC, CRP, VRP and Syphilis sent.

Derm, ID, Optho and Rheumatology consulted.

Elecare feeds increased to 27kcal. Ical, Mg, phoschecked

Switched to Vanc, Gent and Meropenem.

Needed NP suctioning overnight.

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Labs Mg 2.2, phos 5.4, ical 1.4, Zinc 50L, prealbumin

10, Vanc trough 16.7

CMP notable for Na 151H, Cl 111H, CO2 28H,BUN 25H, prot 5.0L, tbili

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Labs WBC 10.6, Hgb 7.2, Hct 23.4, Plts 107

Diff: 6B/20N/67L/5mono/2eos

HSV PCR qns

CRP 8.4 Biotinidase activity normal

Cortisol 27.3H (2-23)

ACTH normal at 37

Repeat Na 147

C5 normal at 11

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Differential Diagnosis: Nutritional deficiency dermatitis, from zinc, vitamin B2,

B3 or B6 deficiency or biotinidase deficiency or CF

Ichthyosis (specifically bullous congenitalichthyosiform erythroderma aka epidermolytichyperkeratosis)

Recessive X-linked ichthyosis

Nethertons syndrome

Lamellar ichthyosis

Dermatitis: contact vs irritant with id reaction Seborrheic dermatitis with id reaction

Atopic dermatitis that is secondarily infected

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Differential diagnosis ctd. Organic acidemias

Multiple carboxylase deficiency

Epidermolytic hyperkeratosis associated with an

immune issue such as Ommens syndrome

Leiners disease

Leukocyte adhesion deficiency type 1

Staph scalded skin syndrome

Wiskott-Aldrich syndrome

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Nethertons syndrome High IgE level. Pts usually develop allergies to

peanuts, eggs and fish.

Rare autosomal recessive genodermatosis withcongenital ichthyosiform erythroderma,

trichorrhexis invaginata (bamboo hair), and atopicdiathesis as well as FTT.

Chronic skin inflammation can cause scaling andexfoliation.

Patients are pre-disposed to life-threateninginfections, sepsis and dehydration.

DNA testing of SPINK5 gene

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Nethertons syndrome kiddo

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Ichthyosis Scaly skin, comes from Gr, fish

Genetic coding error in keratin causes differentphenotypes from epidermolysis bullosa toichthyosis

Defects in intracellular enzymes lead to diseaseslike X-linked ichthyosis or congenitalichthyosiform erythroderma.

Defects in cells themselves from abnl keratin cancause epidermolytic hyperkeratosis or llamellarichthyosis

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X linked ichthyosis Uncommon, 1:2,000 to 1:6,000 males

Worldwide and no ethnic or racial predominance.

Desquamation or pronounced peeling seen w/in afew wks or mos after birth persistent, darkbrown scaling on arms, legs, trunk, and sides ofneck & lower abd.

Palms, soles, hair, nails, teeth and mucosa not

involved.

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What are these diseases? Ommens syndrome; auto. rec SCID with

desquamation

RAG1/RAG2 mutations

LAD1; failure of lymphocytes to traffic/APC issues

Wiskott Aldrich: recurrent infections

Leiner disease: recurrent diarrhea, wasting andseborrheic dermatitis. Defect in complement 3,4

or 5.

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Other & Lab findings X linkedichthyosis

Cryptorchidism in as many as 25% of pts About 50% of adults exhibit asymptomatic

punctate corneal opacities

Will have decreased steroid sulfatase

Can measure this by 1) enzyme assays, 2)cholesterol sulfate accumulation in varioustissues 3) FISH

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Our patient Had CT of head to look for abscessnone found.

Bone scan also unrevealing.

Skin biopsy

Trichogram from eyebrow hairs for Netherton's:No trichorrhexis invaginata, nodosa, ortrichothiodystrophy noted. Hairs appear normal.

Serum sulfatase normal

Discharged and went back home withoutdefinitive diagnosis, but was doing much better.