Self-Healing Collodion Membrane and Mild Nonbullous Congenital Ichthyosiform Erythroderma Due to 2 Novel Mutations in the ALOX12B Gene

Harting, Mandy; Brunetti‐Pierri, Nicola; Chan, Chun Chung; Kirby, Joslyn S.; Dishop, Megan K.; Richard, Gabriele; Scaglia, Fernando; Yan, Albert C.; Levy, Moise L.

doi:10.1001/archderm.144.3.351

Cited by 63 publications

(50 citation statements)

References 29 publications

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“…The findings of van Gysel et al corresponded closely with those of Larregue et al with the most common outcome of collodion babies being erythrodermic autosomal recessive lamellar ichthyosis in 7 of 17 children (43% of cases), followed by nonerythrodermic autosomal recessive lamellar ichthyosis in 3 of 17 children (19% of cases), and other forms in 2 of 17 children (12% of cases). In 4 of 17 children (10% of cases), they found that the skin eventually developed normally, therein giving rise to a self-healing collodion phenotype, as is the case with our patient [1,8].…”

Section: Other Forms Of Ichthyosessupporting

confidence: 76%

Expedient Treatment of a Collodion Baby

Chung

Pittenger²,

Tobin³

et al. 2011

IJPN

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Only ∼270 cases of collodion babies have been reported in the literature since 1892. As the name suggests, the term "collodion baby" refers to a phenotype that can be characterized by a yellow, shiny, tight parchment-like membrane stretched over the skin. Although the collodion membrane is only an evanescent condition of the newborn, neonatal complications can occur in 45% of all collodion babies, leading to a mortality rate of ∼11% in the first few weeks of life. Most children born as collodion babies will spontaneously desquamate within 2 weeks, but may be as long as 3 months. Eventually, these children develop signs of one of several types of ichthyosis, which gives the skin the appearance of "fish scales." We report a unique case of a Caucasian male that was born as a Collodion baby at the University of Kentucky Children's Hospital in Lexington, Kentucky. Although the impairment of the skin barrier function put the patient at risk for a number of complications, he improved significantly after being treated with emollients and antibiotics. In contrast to previous findings, we found that skin emollients were beneficial and did not increase the risk of infection.

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Section: Other Forms Of Ichthyosessupporting

confidence: 76%

Expedient Treatment of a Collodion Baby

Chung

Pittenger²,

Tobin³

et al. 2011

IJPN

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“…32,42,43,48 The self-healing collodion baby representing approximately 10% of all ARCI cases 36,49 has so far been associated with TGM1 or ALOX12B mutations. 37,44 The recently described acral selfhealing collodion baby, ie, at birth the collodion membrane is strictly localized to the extremities and then resolves, can also be a result of TGM1 mutations. 41 …”

Section: Classification Of Arcimentioning

confidence: 99%

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Oji

Tadini

Akiyama

et al. 2010

Journal of the American Academy of Dermatology

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683

704

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“…Distal limb ischemia and hypohydrosis has been reported. Less common presentation includes poor sucking (due to eclabion), restricted pulmonary ventilation (decreased chest wall compliance), digital vascular constriction, and edema of the extremities [6]. After birth, the expansion of the chest with breathing may cause tearing in the inelastic membrane, which begins to peel.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…After birth, the expansion of the chest with breathing may cause tearing in the inelastic membrane, which begins to peel. The membrane is shed within 3 to 4 weeks, usually revealing an ichthyosis phenotype [4,6]. CB is rare, estimated to occur in 1 in 50,000 to 100,000 deliveries.…”

Section: Clinical Featuresmentioning

confidence: 99%

Congenital icthyosis: A case report

Pandey¹

2017

Clin Res Trials

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Congenital Ichyosis is relatively uncommon disease but is the most common cause of Collodian baby. Early diagnosis is required for immediate management and prevention of fluid-electrolyte balance as well as prevention of secondary infections. Definitive diagnosis is essential for long-term management as well as counselling to the parents of affected infant if they are considering having children together. Case reportA full term male infant was born by spontaneous vaginal delivery to a 35 y/o, G5P4 woman. Her prenatal course, including prenatal ultrasound, was unremarkable. Examination at birth:He had normal anthropometry with height, weight and head circumference being between 25 th to 75 th percentiles.Skin: Diffuse erythematous skin lesion with collodion membrane covering the chest and back, tight skin on upper and lower extremities, fissures on areas with skin folds, eversion of the eyelids with inability for complete eye examination, eversion of the lips, and malformation of the auricle.Tone and turgor: with in normal limit. Heent:Anterior fontanelle: soft and flat, normal shape and size. Eyes: Eversion of the eyelids.Ears: External malformation, unable to assess if secondary to skin lesions.Nose: Nares and septum appear with in normal limit.His cardiovascular, abdominal, spine, back, extremities and external gentile examinations were normal.On further evaluation, family history was not significant for any medical and dermatological conditions. There was no history of consanguinity. The patient has a 2 y/o healthy full sister. Mother was carrier for Cystic Fibrosis. He has two half-brothers (13 y/o and 10 y/o) from maternal side who has eczema, otherwise healthy; two half-sisters and one brother from paternal side-all reportedly healthy (Figure 1 and 2). DiscussionCollodion baby is a severe form of Congenital Icthyosis. Congenital Icthyosis is heterogeneous group of disorders of cornification involving all or most of integumentary system [1] which is characterized by a generalized scaling of the skin of varying severity. Mucosal surface and visceral organs are generally spared. Cornification is process of terminal keratinocyte differentiation. At this stage, a lipid envelope is extruded into the intercellular space from lamellar bodies to form lipid sheets composed of ceramides, cholesterol, and free fatty acids [2]. Normal skin turnoverSkin has dermis and epidermis layers. Epidermis has four layersstratum basale, spinosum, granulosum, and corneum from base to top. During normal skin turnover of 28 days, site-relevant proteins and lipids are synthesized in different layers of epidermis. Revised nomenclature and classification of inherited ichthyosesThe

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Self-Healing Collodion Membrane and Mild Nonbullous Congenital Ichthyosiform Erythroderma Due to 2 Novel Mutations in the ALOX12B Gene

Cited by 63 publications

References 29 publications

Expedient Treatment of a Collodion Baby

Expedient Treatment of a Collodion Baby

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Congenital icthyosis: A case report

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