CP

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CPD • A memorable patient Clinical and Experimental Dermatology

Bullous congenital ichthyosiform erythroderma clinically resembling

neonatal staphylococcal scalded skin syndrome
S. Cheng, C. Moss,* C. J. Upton† and N. J. Levell
Dermatology and †Paediatrics Departments, Norfolk and Norwich University Hospital, Norwich; and *Dermatology Department, Birmingham ChildrenÕs
Hospitals, Birmingham, UK

doi:10.1111/j.1365-2230.2008.03019.x

Exfoliative and blistering skin diseases occur rarely in

neonates, but when present require prompt diagnosis
and appropriate management to minimize associated
morbidity and mortality. The similarities in presentation
can pose a diagnostic challenge to both dermatologists
and neonatologists. We report a case of bullous
congenital ichthyosiform erythroderma (BCIE) that
clinically resembled staphylococcal scalded skin
syndrome (SSSS) on initial presentation at birth.
A 22-hour-old neonate presented to our department.
He was a full-term baby born by normal vaginal
delivery. He had generalized erythema, blistering and
erosions (Fig. 1), with no mucosal involvement. The
condition was initially thought to be staphylococcal
scalded skin syndrome (SSSS), which can occur as early
Figure 1 Erythroderma and erosions at birth resembling staphy-
as the first 24 hours of life. The baby showed clinical lococcal scalded skin syndrome.
signs of sepsis, with electrolyte imbalance and impaired
thermoregulation. He was transferred to the neonatal
intensive care unit for antibiotics and supportive treat-
Handling of the baby was minimized to avoid
ment pending laboratory results.
shearing forces on the skin. Within 5 days the erosions
The differential diagnosis included epidermolysis
had healed and gentle handling was re-introduced. As
bullosa (EB) and bullous congenital ichthyosiform
the baby grew older, the erythema and blisters reduced
erythroderma (BCIE). Further questioning of the parents
in frequency and severity, and he achieved all develop-
revealed that the father had presented with a similar
mental milestones. He is now 4 years old and attends
skin condition as a neonate. He had been clinically
school without any problems. There is hyperkeratotic
diagnosed with BCIE but no other family members were
scaling of his skin with a characteristic rough waxy
known to be affected. Knowledge of the fatherÕs disease
appearance and sparing of the palms and soles (Fig. 2).
spared the baby from further diagnostic investigations,
He has been maintained on emollients and occasional
in particular the need for a skin biopsy. Subsequent
systemic antibiotics for skin infections.
genetic testing of the father identified a mutation in the
The babyÕs younger sister was born a year later with
keratin 10 (KRT10) gene.
similar features, although less severe, possibly due to
reduced handling at birth. It was easy to recognize BCIE
and treat her immediately.
Correspondence: Dr Suzanne Cheng, Dermatology Department, Norfolk and BCIE was first recognized by Brocq in 1902 as an
Norwich University Hospital, Colney Lane, Norwich, Norfolk, NR4 7UZ, UK
entity distinct from congenital ichthyotic erythroderma,
E-mail: suzanne.cheng@gmail.com
a nonblistering condition. BCIE has a prevalence of
Conflict of interest: none declared. approximately 1 in 100 000–300 000,1 although mild
Accepted for publication 9 May 2008 cases may go unrecognized. It is far less common than

 2009 The Author(s)

Journal compilation  2009 British Association of Dermatologists • Clinical and Experimental Dermatology, 34, 747–750 747
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CP
A memorable patient
Figure 2 Patient aged 2 years, showing scaly, hyperkeratotic skin.
Note the similarities to his fatherÕs hand.
SSSS, with which it may be confused at presentation,
especially in the absence of a family history. The
hyperkeratotic adult appearance differs markedly from
the neonatal erythroderma, blisters and erosions.2,3
Diagnosis is usually clinical, especially if there is an
affected parent, but may sometimes require histological
confirmation.
Inheritance is autosomal dominant, although 50%
of cases occur as sporadic mutations. Apart from the
effect on keratin, affected individuals are otherwise
normal, an important issue for parents contemplating
prenatal diagnosis. Keratins form intermediate fila-
ments necessary for the structural stability of kerat-
inocytes. Mutations in the keratin 1 (KRT1) and 10
(KRT10) genes are responsible for the epidermal
fragility seen in BCIE.2,3 Currently, the intermediate
filament database (http://www.interfil.org/statistics.
php) reports 55 mutations in KRT1 and 58 in
KRT10. In some cases with no family history of BCIE,
a parent proves to have cutaneous and gonadal
mosaicism for the keratin gene mutation, appearing as
a linear ichthyotic birthmark.4
Neonates must be monitored for sepsis, fluid or
electrolyte imbalance, and pain. They can be nursed
748 Journal compilation  2009 British Association of Dermatologists • Clinical and Experimental Dermatology, 34, 747–750
in a cot rather than an incubator, moisturized and
clothed to minimize friction, and handled carefully, as
shearing forces can remove large areas of skin, although
we encourage handling by parents. Adhesive dressings
must be avoided. Techniques used for EB (http://
www.debra.org.uk) can also be used for BCIE. The
management of older patients with hyperkeratosis
requires regular emollients, keratolytics, antiseptic
washes and systemic antibiotics as necessary. Topical
calcipotriol5 may reduce scaling, but may irritate the
skin and is potentially toxic. Systemic retinoids such as
acitretin (usually at doses of 0.2–0.5 mg ⁄ kg daily in
suspension form) or etretinate promote desquamation,
which helps some children6 and adults but causes
excessive fragility in others. The Ichthyosis Support
Group (http://www.ichthyosis.org.uk) offers patients
additional support.
This case of BCIE in a neonate had striking clinical
features compatible with SSSS. The diagnosis was
clarified by review of the family history, enabling
prompt diagnosis and treatment.
References
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3 Lacz NL, Schwartz RA, Kihiczak G. Epidermolytic hyper-
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4 Paller AS, Syder AJ, Chan YM et al. Genetic and clinical
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5 Kragballe K, Stijlen PM, Ibsen HH et al. Efficacy, tolerability
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 2009 The Author(s)