Generalized atrophic benign epidermolysis bullosa - poor prognosis associated with chronic renal failure

Woo, Hye Jin; Lee, J. H.; Kim, S. C.; Kim, C. W.; Kim, T. Y.

doi:10.1046/j.1365-2230.2000.00617.x

Cited by 10 publications

(7 citation statements)

References 13 publications

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“…Among the stem cell signature genes that are downregulated in K14-DN-Clim mice are several genes involved in the Wnt pathway, but also cell adhesion molecules such as tenascin C. Since hair follicle stem cells reside in a specific niche, it is tempting to speculate that dysfunctional stem cell-matrix adhesion may play a role in the phenotypes observed in K14-DN-Clim mice. In this respect it is interesting to note that hair loss is found in some patients with BP180 mutations (Jonkman et al, 1995;McGrath et al, 1995;Woo et al, 2000). While we do not believe that immune mechanisms are the primary cause of hair and skin abnormalities in K14-DN-Clim mice, the upregulation of MHC class I genes suggests the possibility that immunological mechanisms may contribute to progression of the phenotype.…”

Section: Decreased Number Of Stem Cells In the Hair Follicle Bulge Ofmentioning

confidence: 84%

Co-factors of LIM domains (Clims/Ldb/Nli) regulate corneal homeostasis and maintenance of hair follicle stem cells

Männik

Kudryavtseva

et al. 2007

Developmental Biology

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The homeostasis of both cornea and hair follicles depends on a constant supply of progeny cells produced by populations of keratin (K) 14-expressing stem cells localized in specific niches. To investigate the potential role of Co-factors of LIM domains (Clims) in epithelial tissues, we generated transgenic mice expressing a dominant-negative Clim molecule (DN-Clim) under the control of the K14 promoter. As expected, the K14 promoter directed high level expression of the transgene to the basal cells of cornea and epidermis, as well as the outer root sheath of hair follicles. In corneal epithelium, the transgene expression causes decreased expression of adhesion molecule BP180 and defective hemidesmosomes, leading to detachment of corneal epithelium from the underlying stroma, which in turn causes blisters, wounds and an inflammatory response. After a period of epithelial thinning, the corneal epithelium undergoes differentiation to an epidermis-like structure. The K14-DN-Clim mice also develop progressive hair loss due to dysfunctional hair follicles that fail to generate hair shafts. The number of hair follicle stem cells is decreased by at least 60% in K14-DN-Clim mice, indicating that Clims are required for hair follicle stem cell maintenance. In addition, Clim2 interacts with Lhx2 in vivo, suggesting that Clim2 is an essential co-factor for the LIM homeodomain factor Lhx2, which was previously shown to play a role in hair follicle stem cell maintenance. Together, these data indicate that Clim proteins play important roles in the homeostasis of corneal epithelium and hair follicles.

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Section: Decreased Number Of Stem Cells In the Hair Follicle Bulge Ofmentioning

confidence: 84%

Co-factors of LIM domains (Clims/Ldb/Nli) regulate corneal homeostasis and maintenance of hair follicle stem cells

Männik

Kudryavtseva

et al. 2007

Developmental Biology

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“…JEB: As in Case 3, the majority of patients with JEB died during childhood (Table 3). However, a patient was reported to die at age 25 years with intracranial hemorrhage and sepsis (23). Another report documented a patient died of complications of squamous cell carcinoma at the age of 75 years (24).…”

Section: Eb Mortalitymentioning

confidence: 99%

Age and etiology of childhood epidermolysis bullosa mortality

Hon

Cheng

et al. 2014

Journal of Dermatological Treatment

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Epidermolysis bullosa (EB) is a heterogeneous group of congenital blistering diseases that are usually present in the neonatal period. They are characterized by blister formation in response to rubbing or frictional trauma. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), and dystrophic epidermolysis bullosa (DEB). We describe the causes and ages of death of three cases of EB in Hong Kong. A 24-year-old male with EBD diagnosed in the neonatal period lived a withdrawn life after completing secondary school and died of metastaic squamous cell carcinoma. Two neonates of consanguineous Pakistani parents, one with JEB and the other with EB-Pyloric Atresia variant, died of sepsis in infancy. We performed an extensive literature review of the causes and ages of death of these diseases. EB is a heterogeneous inherited blistering skin disease associated with significant morbidity and mortality. EBS is occasionally associated with death at early ages with sepsis. Patients with JEB usually died of sepsis at young age. DEB patients often survive to adulthood and die of cardiopulmonary and renal complications. Squamous cell carcinoma and metastases are unique in DEB.

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“…These complications may lead to chronic kidney disease with high morbidity and mortality [6][7][8]. Although renal and urinary tract involvement is usually seen in patients with the most severe subtypes (eg junctional and recessive dystrophic disease), these complications may arise in any subtype of inherited EB, including the milder forms [7,11].…”

Section: Introductionmentioning

confidence: 99%

Kidney and Urinary Tract Involvement in Epidermolysis Bullosa: Is Routine Follow-Up Necessary?

Çiçek

Yıldız

Asadov

et al. 2021

Dermatol Pract Concept

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Background: Several renal and urinary tract complications have been reported in patients with epidermolysis bullosa. Objective: This study investigated kidney and urinary tract involvement in patients with epidermolysis bullosa. Patients and Methods: Patients with epidermolysis bullosa in treatment at the Dermatology Unit were included in the study. Glomerular and tubular functions were investigated. Results: The study included 16 patients (4 females, 12 males) of mean 11.1 years (SD = 8.1 years). Estimated GFR was normal in all patients except one with end-stage renal disease. Excluding this patient, the urinary albumin/creatinine ratio and the fractional excretion of sodium were normal. The mean beta-2 microglobulin/creatinine ratio was 278.8 µg/g, and it was abnormally high in 2 patients. The mean tubular phosphorus reabsorption was 92.6%; it was abnormally low in 1 patient. Severe kidney or urinary tract involvement was present in 2 patients with recessive dystrophic EB-generalized severe (RDEB-GS): one patient had obstructive bullous lesions in the urethra; the other had end-stage renal disease secondary to focal segmental glomerulosclerosis and was on peritoneal dialysis for 3 years. Conclusions: Assessment for renal and urinary tract involvement should become a routine part of the evaluation of patients with any type of EB, but especially of patients with RDEB-GS. Patients with mild tubular dysfunction need long-term follow-up to detect early deterioration of renal function.

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Generalized atrophic benign epidermolysis bullosa - poor prognosis associated with chronic renal failure

Cited by 10 publications

References 13 publications

Co-factors of LIM domains (Clims/Ldb/Nli) regulate corneal homeostasis and maintenance of hair follicle stem cells

Co-factors of LIM domains (Clims/Ldb/Nli) regulate corneal homeostasis and maintenance of hair follicle stem cells

Age and etiology of childhood epidermolysis bullosa mortality

Kidney and Urinary Tract Involvement in Epidermolysis Bullosa: Is Routine Follow-Up Necessary?

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