Care of the newborn with ichthyosis

Dyer, John A.; Spraker, Mary K.; Williams, Mary L.

doi:10.1111/j.1529-8019.2012.01555.x

Cited by 50 publications

(47 citation statements)

References 58 publications

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“…Therapy with systemic oral retinoids is often recommended to promote shedding of hyperkeratotic plates, and improve ectropion and eclabion . Using retinol acid derivatives as both topical and systemic combined treatment results in spectacular clinical improvement in collodion babies, as our case confirmed. The application of this therapy in infants, in whom the course of the disease is most dramatic, may significantly improve their prognosis.…”

supporting

confidence: 69%

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Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis

Pietrusiński¹,

Stańczyk-Przyłuska²,

Chlebna-Sokół³

et al. 2014

Clin Exp Dermatol

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between prepubertal nonsegmenal vitiligo (NSV) and AD, and a possible shared mechanism for both. 1 However, the association of AD and SV has not been clearly established.To our knowledge, this is the first case report of spreading of SV after immunotherapy in a patient with AD. Such spreading is not thought to be associated with an autoimmune process, although SV has recently been reported to share an autoimmune mechanism with NSV. 2,3 Although SV is usually explained by the neural hypothesis, this case supports a recent hypothesis that SV has a similar immunological mechanism to NSV in its development. 3 A CD8+ melanocyte-specific T cellmediated immune response is known to play a role in SV with associated halo naevi, similar to NSV. 4 It has been reported that dysfunction of humoral immunity may play a role in the progression of SV, whereas cellular immunity seems to be involved in NSV. 5 T helper (Th)1/Th17 cellular immunity is thought to be involved in the pathogenesis of vitiligo, whereas AD is regarded as a Th2-skewed allergic skin disease. The mechanism of immunotherapy in AD is to downregulate Th2 response and to upregulate the Th1 pathway through allergen sensitization. Thus, our case shows that immunotherapy in AD could aggravate vitiligo via an immunotherapy-induced Th1 immune response.The presence of AD lesions over the dorsum of the patient's left foot might indicate development of vitiligo lesions through koebnerization. However, this does not explain the spreading of vitiligo lesions on the left abdomen, which was not accompanied by AD. Furthermore, the AD lesions were bilateral and the vitiligo lesions were unilateral.In conclusion, our case suggests that immunotherapy for AD treatment could initiate spreading of SV, and that SV might have an overlapping immunological mechanism with NSV.

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supporting

confidence: 69%

“…The application of this therapy in infants, in whom the course of the disease is most dramatic, may significantly improve their prognosis. However, the application of this treatment later in the child's life must be closely monitored because of side‐effects …”

mentioning

confidence: 99%

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis

Pietrusiński¹,

Stańczyk-Przyłuska²,

Chlebna-Sokół³

et al. 2014

Clin Exp Dermatol

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“…The estimated incidence is less than 1/300.000 births [1]. HI represents the most severe form of non-syndromic ichthyoses, associated with perinatal morbidity and potential lethality early in the life [1,2]. At birth, patients present thick and plaque-like scales all over the body, ectropion, eclabium and ears deformities, evolving in severe desquamative erythroderma.…”

Section: Introductionmentioning

confidence: 99%

Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review

et al. 2020

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Background: Harlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life. At birth, patients present thick and plaque-like scales all over the body, with consequent cutaneous and extra-cutaneous complications, such as poor thermoregulation, recurrent infections, pain, electrolytes imbalance and joint contractures. Juvenile Idiopathic Arthritis usually manifests before the age of 16 years and persists for more than 6 weeks. The association between these two pathologies has been described in the literature as a very rare event, which creates diagnostic and therapeutic challenge. Case presentation: We describe two patients affected by Harlequin Ichthyosis who early developed Juvenile Idiopathic Arthritis. Both patients were treated with retinoids, ibuprofen and long-acting intra-articular glucocorticoids; due to polyarticular involvement, one child was also treated with weekly oral methotrexate. Conclusions: The association between Harlequin Ichthyosis and Juvenile Idiopathic Arthritis is rare and the pathophysiological mechanism that binds them is still unknown. Nonetheless caregivers should be aware of the possible occurrence of Juvenile Idiopathic Arthritis at very early ages in children affected by Harlequin Ichthyosis.

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“…The evolution after the pickling is variable. The baby can heal spontaneously (10 to 20%) [4,5] and shed membranes to reveal normal skin. Most often, the baby evolves in a more or less severe form of ichthyosis.…”

Section: Introductionmentioning

confidence: 99%

Ischemic Risk in Collodion Baby: An Orthopaedic Perspective

Besonhe

Docquier

2020

Case Reports in Orthopedics

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Collodion baby is a rare condition in which the baby is born surrounded by membranes called collodion membranes. The evolution of these membranes is towards cracking and peeling. Sometimes, retraction leads to hypoperfusion or ischemia (especially of fingers and toes). In case of acute ischemia, surgery is necessary. We report the case of a newborn in which surgery was necessary to free both fingers and toes from constrictive bands responsible for ischemia. In the absence of surgery, the constrictive bands can lead to amputation (pseudoainhum). The purpose of this case report is to expose the management and the role of an orthopaedic surgeon in the treatment of a collodion baby.

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Care of the newborn with ichthyosis

Cited by 50 publications

References 58 publications

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis

Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review

Ischemic Risk in Collodion Baby: An Orthopaedic Perspective

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