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]

  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]

  Aggressive nutritional support should be employed in any child with recessive dystrophic EB who has evidence of growth retardation, since malnutrition oftentimes arises in these patients as a result of chronic loss of blood and protein through nonhealing [dermatologyadvisor.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]

• Nail Abnormality

  small grouped hypopigmented papules on the lower back ( b ) Nail abnormalities with dystrophy or loss at birth or infancy may be an isolated finding as reported in DDEB [ 26, 27 ]. [plasticsurgerykey.com]

  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]

  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]

• Decrease in Height

  Three patients had increased, six had maintained, and three had decreased their height centile position; the latter three all increased their height centile initially. [ncbi.nlm.nih.gov]

• 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

  […] 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]

  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]

  %) ( 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]

  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]

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

• 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]

  Phenytoin, minocycline cyclosporin and vitamin E have been used for the skin lesions. [17] However, these therapies were not helpful and have been abandoned. [indianjnephrol.org]

  Skin lesions heal invariably with scars and milia. The risk for the development of squamous cell carcinomas is increased. Fig. 42.5 Generalized intermediate recessive dystrophic EB. [plasticsurgerykey.com]

  Infection: Healing is diminished by secondary infection of skin lesions, usually by S. aureus or beta-hemolytic streptococci. [dermquest.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]

• Peripheral Neuropathy

  The chronic inflammatory state seen in recessive dystrophic epidermolysis bullosa (RDEB) may cause Small fiber peripheral neuropathy (SFN); RDEB patients have reported the sensation of pain in line with neuropathic pain qualities. [en.wikipedia.org]

• 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]

“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]

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]

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]

We describe the fourth confirmed case of pyloric atresia associated with the dystrophic subtype of EB diagnosed by standard pathologic measures, and discuss the clinical disease features and recent advances in the pathophysiology. [ncbi.nlm.nih.gov]

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]

[…] 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]

In an appropriate dosage, it prevents amyloidosis and also helps in arresting renal amyloidosis. [19] Colchicine treatment was clearly shown to ameliorate the course of FMF and to prevent the development of amyloidosis. [19] Although RDEB is known to [indianjnephrol.org]

Identification of and intervention in these at an early stage may prevent more serious complications during later childhood or young adulthood. [dermatologyadvisor.com]