We present one family with both dystrophic and pruriginosa phenotypes of epidermolysis bullosa. [ncbi.nlm.nih.gov]

• Malnutrition

  symptomatic management of pain, itch, and anxiety; coordination of dressing changes; aggressive treatment of skin infections; environmental and staffing considerations; and awareness of other chronic complications that affect care, such as anemia, malnutrition [ncbi.nlm.nih.gov]

  Malabsorption commonly results in a mixed anemia resulting from a lack of iron absorption, and overall malnutrition may cause failure to thrive. [raregeneticdisorder.blogspot.com]

  Mucosal erosions of the esophagus can also be present, all these features and caloric need for wound healing can lead to malnutrition and growth retardation. [indianpediatrics.net]

  Nutrition in CKD : 5th edition [PDF] Malnutrition in chronic kidney disease (CKD) is common but is often undiagnosed. This evidence-based clinical practice guideline summarises the main interventions that may be recommended in the... [evidence.nhs.uk]

  Scarring in the mouth and esophagus can make it difficult to chew and swallow food, leading to chronic malnutrition and slow growth. [ghr.nlm.nih.gov]

• Nail Abnormality

  Abnormalities Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy Mal De Naxos Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities NXD [ukgtn.nhs.uk]

  Fig. 42.6 Dominant dystrophic EB presenting with moderate scarring, erosions, and crusts at mechanically exposed acral sites ( a ) and with “albopapuloid” lesions, i.e., small grouped hypopigmented papules on the lower back ( b ) Nail abnormalities with [plasticsurgerykey.com]

  The LOC syndrome is characterized by localized blistering and scarring, particularly on the face and neck, in association with upper airway disease activity and nail abnormalities [ 8, 9 ]. [ojrd.biomedcentral.com]

• Bruxism

  RESULTS: Despite multiple fractures of the acrylic resin veneers caused by severe bruxism and the small occlusal surface, this rehabilitation proved successful until the patient died at age 25, as a consequence of his hereditary disease. [ncbi.nlm.nih.gov]

• Osteopenia

  Osteopenia and osteoporosis in epidermolysis bullosa. Dermatol Clin. 2010; 28 :353–5. [ PubMed : 20447502 ] Matsumoto Y, Dogru M, Tsubota K. [ncbi.nlm.nih.gov]

  Patients with generalized forms of JEB and RDEB need to be monitored by serial DEXA scans for possible osteoporosis or osteopenia, and in selected EB subsets other laboratory parameters (hematological; renal) or diagnostic tests (echocardiogram) should [ojrd.biomedcentral.com]

• Blister

  Immunomapping of a blister demonstrated collagen IV (basal membrane) in the blister roof and collagen VII in its floor, confirming dystrophic epidermolysis bullosa. [ncbi.nlm.nih.gov]

  Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. [ghr.nlm.nih.gov]

• Alopecia

  The hallmark sign is cutaneous atrophy without scarring, present at birth, nails are absent, milia may appear on the scalp and cause alopecia. [kissesforkatie.org]

  %) ( Benign Lichenoid Keratosis, Lichen Planus-like Keratosis, Solitary Lichen Planus, Solitary Lichenoid Keratosis,) Pachyonychia Congenita (29 %) Nevus Sebaceous (29 %) ( Nevus Sebaceous Of Jadassohn, Organoid Nevus,) Follicular Mucinosis (29 %) ( Alopecia [gulfdoctor.net]

  […] bullosa pseudosyndactyly (mitten-hand deformity) of the hands and feet Ectodermal dysplasia-skin fragility syndrome is a rare disorder characterized by skin erosions, skin fragility and peeling beginning at birth or infancy that may be accompanied by alopecia [raregeneticdisorder.blogspot.com]

  Nail dystrophy and scarring alopecia may also be present. [dermnet.com]

  There were patchy areas of cicatricial alopecia on the scalp and deformed blisters and erosions on the back [Figure - 1] and distal portions of the extremities. Mitten-hand deformity was observed on the hands [Figure - 2]. [indianjnephrol.org]

• Skin Lesion

  A 16-month-old boy was diagnosed with Hallopeau-Siemens recessive DEB on the basis of typical skin lesions composed of multiple blisters with moderately healed erosions, scarring on trauma-exposed body sites, including hands and feet, pseudosyndactyly [ncbi.nlm.nih.gov]

  Although skin lesions can be treated with dermatologic care, the patient can also be complicated by life-threatening clinics such as nephropathy, systemic amyloidosis and skin cancers by years. [indianjnephrol.org]

  This book contains essential dermatologic diagnostic information innovatively organized around traditionally classified skin lesions. [books.google.com]

  Pretibial RDEB is characterized by pretibial blistering at birth or early infancy, involvement of hands and feet, lichen planus-like skin lesions, nail dystrophy [may precede skin blistering], excessive caries, and constipation. [plasticsurgerykey.com]

• Xanthoma

  Histopathological examination showed hyperkeratosis, parakeratossis, and verrucous acanthosis and numerous large xanthoma cells in the papillary dermis. [ncbi.nlm.nih.gov]

• Skin Patch

  We describe a 21-year-old man with recessive dystrophic epidermolysis bullosa carrying the homozygous c.6508C>T (p.Gln2170X) nonsense mutation who reported an unaffected skin patch on his neck where blisters never had occurred. [ncbi.nlm.nih.gov]

• Nystagmus

  A 7-month-old boy with dense bilateral cataracts and nystagmus underwent cataract extraction, lens implantation, and limited vitrectomy with the use of specialized techniques to reduce iatrogenic skin and ocular surface complications. [ncbi.nlm.nih.gov]

At present there are no universally agreed-upon protocols for the surveillance for and workup of possible extracutaneous complications in patients with RDEB, although most EB experts suggest that baseline laboratory tests be conducted in early childhood [dermatologyadvisor.com]

As cyclosporine has been used for the treatment of RDEB we decided not to use cyclosporine for the second group of seven patients. Skin biopsies from the lesions were studied by electron microscopy before and after treatment. [ncbi.nlm.nih.gov]

This study will aid the molecular diagnosis, genetic counseling and prognosis prediction of RDEB patients. [ncbi.nlm.nih.gov]

This case highlights many of the typical features of this complication of RDEB including the overall poor prognosis. [karger.com]

DDEB-G has a good prognosis and manifests due to reduced collagen type VII expression. Blistering in DDEB-G is typically mild and limited to areas more prone to trauma such as the hands, elbows, knees, and feet. [news-medical.net]

This is critical for therapy, genetic counseling, and prognosis. Genetic counseling: Since these diseases are inherited, genetic counseling is essential. [dermquest.com]

PROGNOSIS AND TREATMENT CHARACTERIZATION PROGNOSIS MALIGNANCIES Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. National Epidermolysis Bullosa Registry, Nashville, Tennessee, USA. [thedoctorsdoctor.com]

[…] is characterized by generalized erosions, palmoplantar keratoderma, painful fissures, and some nail dystrophy and hair loss. [5] Molecular pathology of junctional epidermolysis bullosa Junctional epidermolysis bullosa has a highly variable molecular etiology [emedicine.medscape.com]

Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Springer Science & Business Media. p. 242. ISBN 9783211792711. ^ a b c d e f g h i j k "Epidermolysis bullosa". rarediseases.info.nih.gov. [en.wikipedia.org]

Life with Epidermolysis Bullosa: Etiology, Diagnosis, and Multidisciplinary Care and Therapy Wien New York: Springer Verlag GmbH; 2009:258-277. [ojrd.biomedcentral.com]

As will be discussed elsewhere, rigorous epidemiological case finding methods were used to identify and recruit participants throughout the United States. [dx.doi.org]

A clinical, genetic and epidemiological study. Oslo-Bergen-Tromsö: Universitetsforlaget 1970 Google Scholar 7. Geerts, M.L., Overbeke, J., Kint, A., Cormane, R.H.: Comparative Electron Mikroscopic Study between Mendes Da Costa’s. [link.springer.com]

Google Scholar Fine JD: Epidemiology and the study of genetic diseases. Edited by: Grob JJ, MacKie R, Stern R, Weinstock M. Epidemiology and prevention of skin diseases London: Blackwell Science; 1996. [ojrd.biomedcentral.com]

“Epidermolysis bullosa: Clinical, epidemiologic, and laboratory findings of the National Epidermolysis Bullosa Registry”. 1999. [dermatologyadvisor.com]

Epidemiologic data, however, is limited because of largely missing comprehensive cohort studies. [plasticsurgerykey.com]

It is hypothesised that the higher skin temperature in the affected areas plays an important role in the pathophysiology of RDEB-I. [repository.ubn.ru.nl]

Kindler syndrome has been shown to result from mutations in the KIND1 gene on band 20p12.3 (see Pathophysiology ). [dermaamin.com]

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol. 2008 Sep. 128(9):2156-65. [Medline]. Rognoni E, Ruppert R, Fässler R. [emedicine.medscape.com]

As knowledge about the pathophysiology of EB has become more advanced, new variants of EB have been identified based on their specific genetic mutation. [ 1 ] Investigations [ 11 ] Skin biopsy is required. [patient.info]

Albopapuloid epidermolysis bullosa (Pasini's disease) are rare subtypes of this disease. [13] Other genetic [ edit ] OMIM Name Locus Gene 609638 epidermolysis bullosa, lethal acantholytic 6p24 DSP Epidermolysis bullosa acquisita [ edit ] Acral peeling [ edit ] Pathophysiology [en.wikipedia.org]

[…] recessive dystrophic epidermolysis bullosa (RDEB); describes the phases and difficulties of dental treatment and the measures that dentists and health care providers should adopt in order to provide a safe and effective dental treatment as well as earlier prevention [ncbi.nlm.nih.gov]

Patients should be advised to avoid trauma, which helps prevent blister formation. Sun avoidance and photoprotection may prevent or slow the progression of poikiloderma. [dermaamin.com]

These anchors consist of collagen and prevent the two layers of skin from shearing, or moving independently from one another. [medicalnewstoday.com]