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LIVE BLOG: Approaches to Pediatric Genetic Skin Disorders

In this live blog, Dr. Megha Tollefson lectures on Approaches to Pediatric Genetic Skin Disorders at the SDPA Summer Conference 2013 in St. Louis, with tips on how to narrow diagnosis options and treat pediatric patients with care and family-conscious support.



– Take a deep breath

– Note other health problems

– Take a good family history

– Throrough skin exams

– Phone a friend, get advice

– Genetic testing may not be an option, narrow it down for a more informed decision


Genetic Skin Diseases

+ Abnormal pigmentation – Look at which parts of the body have pigmentation

   Ex: Skin and Eyes: Oculocuntaneous Albinism

+ Photosensitivity

+ Scaly baby – primary skin involvement or syndromic

+ Blistering Baby – Diffuse/Localized


— Scaly Baby —

+ Ichthyosis Vulgaris (Primary Skin Involvement, Mild)

            – Most common genetic forn of ichthyosis   

+ 4-12 in 1000 people

            – Usually with darker skin patients


What it Looks Like

+ Plate-like large scale

+ Pretibial, lateral lower leg

+ Appear darker on darker skin

+ Can have scaling of forehead and cheeks

+ Hyperlinear palms

+ Patients often have atpoc background

+ Atopic dermatisis common

+ Keratosis pilaris frequestntly associated


Treatment Tips

+ Short lukewarm baths

+ Moisturizer

+ Lactic acid or urea-containing creams


+ X-linked Ichthyosis: (Primary Skin Involvement, Male, brown scale)

            – Mutation in ARSC1 gene

            – 1 in 2000 to 10000

            – Manifests within first 3 months of life

            – 17% at birth

            – May have collodion membrane


What it Looks Like

+ Involves the entire body

+ Severity of scaling variable

+ Dark, large scale

+ Scales may shed periodically

+ Spares face, palms

+ Hypogonadism

+ Pre-natal diagnosis possible based off of low maternal esriol levels


Treatment Tips

+ Topical moisturizer

+ Antibacterial soap

+ Topical keratolytics

+ Oral retinoids for severe cases

+ Testicular exam


+ Collodion Baby


What it Looks Like

+ Description for babies born with membran like covering

+ May be premature

+ 65% have AR congenital ichthyosis

+ Respitory difficulty because of restriction with the skin

+ Temperature instability

+ Supportive care initially: Incubator, Emollients


Treatment Tips

+ Breathing creates tears and it will shed in 3-4 weeks

+ 10% is self-healing

+ Babies need high-humidity incubator in NICU

+ Caloric supplementation

+ Monitor for infection

+ Avoid medicated creams


+ Harlequin Ichthyosis (Primary Skin Involvement, Severe)

Autosomal recessive Congenital Ichthyosis

Deficiency of ABCA12

            Most severe form of ARCI


What it Looks Like

+ Armor-like skin at birth

+ Facial distortion

+ Poorly developed digits

+ Most babies do not survive the neonatal period

            – Respitory distress

            – Sepsis

            – Hypothermia


Treatment Tips

+ High mortality

+1/3 of survivors with developmental delay

+ Moisturizer can help with pain

+ Supportive care: eye lubrication, treat pulmonary dysfunction



Syndromic Scaly Baby Diseases

+ Neutral lipid storage disease with ichthyosis

+ TTD with ichthyosis

+ Conradi-Hunermann-Happle syndrome • KID syndrome

+ Loricrin keratoderma

+ ARC syndrome

+ KLICK syndrome

+ Netherton syndrome

+ Refsum disease

+ Sjogren-Larsson Syndrome



–Baby’s with Blisters: Epidermolysis Bullosa (EB) –


+ Epidermolysis Bullosa Simplex

+ Junctional Epidermolysis Bullosa

+Dystrophic Epidermolysis

This is a group of inherited skin disorders characterized by blister formations with varying amounts of friction or trauma.  The severity depends on the level in the skin.  It is found in 1 of 50,000 births.



EB Simplex

Intraepidermal cleavage

Keratins 5 and 14

Autosomal dominant

Major types

Localized (Weber-Cockayne)

Generalized (Koebner)

Most Severe: Dowling-Meara (EBS herpetiformis)


            + Most common type of EB

+ High threshold of friction or trauma required

+  Usually hands and feet

+ Usually present in infancy but may not present until adulthood

+  Hyperhidrosis

+ Palmoplantar hyperkeratosis


            + Generalized skin blistering

+ Worst at areas of friction

+ Improves with age

+ Hyperhidrosis

+ Palmoplantar hyperkeratosis

+ Can have intraoral involvement

+ 20% have nail involvement



Junctional EB

Autosomal recessive

Spectrum from mild involvement to lethal

Nail and Mouth involvement common


+ Herlitz type

            Most kids don’t make it past age 2

            Oral and esophageaol blisters

            Loss of fingernail

            Growth retardation and anemia

+ Generalized Herlitz

            Not as lethal

            Localized and Diffuse

+ with Pyloric Atresia

            usually lethal in neonatal period

            no fingernails

            severe generalized blisters


Dystrophic EB

Dystrophic = scarring


            + Dominant (less severe)

                        present at birth, blisters with scars and milia, 80% nail involvement, GI


            + Recessive Dystrophic EB

                        Life-altering disease

                        Widespread dystrophic scarring and severe mucous membrane


                        Mitten deformity

                        Dental deformity


There is no cure for EB, it’s more about supportive care

+ Minimize trauma and friction, genetic counseling, psychological support

+ Daily to every other day bathing, remove bandages and give pain medication prior

+ Antibactieral ointment for wound care

+ Dressings have 3 layers: contact layer, protective layer, tubular netting or rolled gauze

+ Avoid tape and pressure

+ Bandage each digit individually to prevent mitten deformity

+ Calorie support

+ Stem cell transplant


[image by Lubs Mary]

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