Collodion baby is a descriptive term for infants born encased in a membrane-like thick scale resembling oiled parchment or col- lodion. Neonates born with the features of collodion baby subse- quently develop lamellar ichthyosis, ichthyosiform erythroderma, or other forms of ichthyosis. Collodion baby is a rare congenital condition accounting for 1 in 50,000 to 1 in 100,000 deliveries.
GENETICS/BASIC DEFECTS
1. Etiology
a. Common severe phenotype (not associated with non- cutaneous features)
i. Autosomal recessive nonbullous congenital ery- throdermic ichthyosis (50% of cases) including harlequin fetus. Harlequin ichthyosis represents the most severe end of the phenotypic spectrum ii. Autosomal recessive lamellar ichthyosis (10%)
with mutations in the gene for keratinocyte trans- glutaminase (TGM1) on chromosome 14q11 in many patients
iii. Two self-healing collodion baby siblings observed to have compound heterozygous trans- glutaminase 1 mutations G278R and D490G iv. Mapping of a second locus for lamellar
ichthyosis to chromosome 2q33-q35
v. Rare reports of autosomal dominant lamellar ichthyosis
vi. Other clinically indistinguishable cases linked to chromosomes 3 and 19
b. Common milder phenotypes
i. Mild form of ichthyosis vulgaris (10%) ii. Recovery without sequaelae (10%) c. Associated congenital ichthyosis
i. Trichothiodystrophy
ii. Poorly documented true collodion membrane a) Sjogren-Larsson syndrome (ichthyosis,
spastic paraplegia, mental retardation, and retinopathy with abnormal levels of fatty aldehyde dehydrogenase activity in cultured fibroblasts)
b) Netherton syndrome c) Gaucher disease type II d) Congenital hypothyroidism e) Conradi syndrome
f) Dorfman Chanarin syndrome g) Ketoadipiaciduria
h) Koraxitrachitic syndrome i) Ichthyosis variegata
j) Palmoplantar keratoderma with anogenital leukokeratosis
2. Pathogenesis
a. Pathogenesis not yet clarified
b. The term “collodion baby” is considered a descriptive term for infants born encased in membrane-like thick scale and includes several heterogeneous conditions c. Several disorders of cornification showing this phe-
notype at birth
d. A mutation of keratinocyte transglutaminase may play a role in lamellar ichthyosis, although lamellar ichthyosis is still considered genetically heterogeneous e. Keratinocytes lacking specific transglutaminase will
not cause cross-linked envelopes
CLINICAL FEATURES
1. Major clinical features
a. Newborn covered with a taut, shiny membrane resem- bling plastic wrap
b. The membrane often fissured and cracked at birth c. Lamellar exfoliation cracks and peels over the course
of several weeks to reveal underlying normal skin or skin with mild scaling that goes on to resolve d. Red/ivory-colored (erythematous) underlying skin e. Persistence of mild ichthyosis in some patients
f. Ectropion (eversion of the eyelids) g. Eclabium (eversion of the lips) h. Crumpled pinnae
i. Resolved tapered fingertips and partially flexed hands with shedding of the encasing membrane
2. Minor clinical features
a. Secondary skin infections in the cracks and fissures b. Scarring in the areas of deep fissuring
3. Complications
a. Difficulties in temperature regulation
b. Increased insensible water loss predisposing to hyper- natremic dehydration
c. Secondary infections from gram-positive organisms and Candida albicans
d. Septicemia
e. Pneumonia secondary to aspiration of squamous material in the amniotic fluid
f. Respiratory difficulty due to restricted chest wall movement
g. Possible loss of vision caused by corneal damage 4. Prognosis
a. Long-term prognosis difficult to address at birth b. Infrequently, a collodion baby may have normal skin
after exfoliation of the membranes
DIAGNOSTIC INVESTIGATIONS
1. Skin biopsy
a. Transglutaminase assay
b. Conventional and electron microscopy
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Collodion Baby
196 COLLODION BABY
i. Hyperkeratosis with thick compact cornified layer (orthokeratoric stratum corneum)
ii. Aberrant keratinized/cornified cells
iii. Irregularly convoluted horny cells and numerous intercellular Odland bodies (lamellar granules) and nuclear debris in distal layer of the stratum corneum
2. Molecular genetic analysis
a. TGM1 sequence analysis: identification of mutation of keratinocyte transglutaminase 1 gene for severe form of autosomal recessive lamellar ichthyosis and self-healing collodion baby
b. TGM1 mutations include missense, nonsense, and splice site
c. Carrier testing available to at-risk family members on a clinical basis once the mutation in TGM1 has been identified in the proband
3. Studies for other associated conditions
a. Polarized light examination of hair and eye brows i. Trichothiodystrophy
ii. Netherton syndrome b. Leukocyte lipid inclusions
i. Dorfman Chanarin syndrome ii. Neonatal Gaucher disease
c. Thyroid hormone level: congenital hypothyroidism d. Skeletal study: Conradi syndrome
e. Neurosensory evaluation
GENETIC COUNSELING
1. Recurrence risk a. Patient’s sib
i. Autosomal recessive inheritance: 25% recur- rence risk
ii. Autosomal dominant inheritance: not increased unless a parent is affected
b. Patient’s offspring
i. Autosomal recessive inheritance: not increased unless the spouse is a carrier or affected ii. Autosomal dominant inheritance: 50%
2. Prenatal diagnosis: direct mutation analysis of the ker- atinocyte transglutaminase 1 gene on fetal DNA obtained from amniocentesis or CVS for severe form of autosomal recessive lamellar ichthyosis, provided the mutation in TGM1 has been identified in the proband
3. Management: requiring intensive care a. Maintain skin integrity
i. Assess open skin lesions
ii. Minimal handling with precaution
iii. Prevent secondary infection and avoid prophy- lactic use of antibiotics
b. Maintain body temperature i. Avoid radiant heat
ii. Use humidified incubator for dehydration and hypothermia
iii. Pre-warm all linen used to absorb weeping
c. Ophthalmological management of ectropion impor- tant for the prevention of conjunctivitis and keratitis d. Sedation with opioids indicated for severe pain e. Retinoids in case of delayed shedding of the collo-
dion membrane beyond 3 weeks
f. Use keratolytics agents (e.g., alpha-hydroxy acid preparations) to promote peeling and thinning of the stratum corneum as the child becomes older
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COLLODION BABY 197
Fig 1. A collodion baby wrapped with a taut, shinny membrane over the whole body, red underlying skin, ectropion, crumpled pinnae, and partially flexed hands by encasing membrane.
