We are presenting the case of male homozygous twins with 30 weeks of gestational age that seek medical attention for presenting difficulty breathing and abdominal distention. [go.gale.com]

Further studies are needed to assess which of the JEB varieties are present in the PA-JEB syndrome. ( Arch Dermatol. 1992;128:1083-1086) [jamanetwork.com]

We present a case of this association diagnosed by prenatal MRI with corroborative postnatal imaging and surgical findings. [ncbi.nlm.nih.gov]

The main presenting symptoms were non-bilious vomiting in 90% of cases. Four patients had upper abdominal distension at the time of presentation and one presented with gastric perforation and signs of hypovolaemia. [afrjpaedsurg.org]

• Pain

  Constipation may be further compounded by side effects from pain medicines. Treatment with laxatives may be needed. Pain management Blisters and wounds can be painful but children’s need for pain relieving medicines varies greatly. [gosh.nhs.uk]

  We underscore the importance of adequate intra-and post-operative pain management. Analgesia with morphine or fentanyl and midazolam may be required 30–45 min before dressing changes. [scielo.org.co]

  dysphagia, scarring, fibrosis, GERD, perforation• Perianal blistering, erosions and painful fissures common in childhood• Fecal retention, abdominal pain, bloating• Ocular – symblepharon, limbal broadening, corneal erosions, opacification, scarring [slideshare.net]

  Resources About EB Newborn Care Wound Care Pain Management EB Specialty Clinics Order Wound Care Healthcare Professional Families Patients Resources Conferences/Events EB Organizations EB Awareness Week [ebnurse.org]

• Malnutrition

  Management of pain, pruritus, infection, scarring and deformities, malnutrition and anaemia all play a major part in the day to day treatment of RDEB. Squamous cell carcinomas are treated surgically. [dermnetnz.org]

  The infant continued to deteriorate with worsening of the blisters, and subsequent bacterial and fungal sepsis compounded by malnutrition due to: feeding difficulties and plasma losses from the blisters. [jpma.org.pk]

  […] buttocks, pinnae of the ears Nails Absent (shed) Ear Nose Throat Dysplastic teeth with enamel defects, oral erosions, laryngeal involvement with hoarseness, croup, edema Hematologic Multifactorial anemia Musculoskeletal Growth retardation secondary to malnutrition [cram.com]

  As a result, many affected children have chronic malnutrition and slow growth. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. [icdlist.com]

  Malabsorption may produce a mixed anaemia from iron and folate deficiency and overall malnutrition may cause failure to thrive. [patient.info]

• Anemia

  […] in the future Non Herlitz Variant See EBS JEB Pyloric Atresia Referral to surgeon/urologist surgical release of GI/GU strictures, dilatation and gastrostomy Herlitz variant usually fatal by 3 to 4 years of age secondary to profound hypoproteinernia, anemia [cram.com]

  Anemia – A reduced amount of red blood cells and volume of red blood cells, amount of hemoglobin. Hemoglobin is the oxygen carrying portion of the red blood cell. [blog.ebinfoworld.com]

  Treatment for iron deficiency anemia is often necessary. Other patients have selenium and carnitine or vitamin D deficiencies which may predispose them to cardiomyopathy and osteoporosis. [rarediseases.org]

  Anemia - A reduced amount of red blood cells and volume of red blood cells, amount of hemoglobin. Hemoglobin is the oxygen carrying portion of the red blood cell. [debra.org]

  These children are also characteristically short-statured and have moderate to severe multifactorial anemia and growth retardation. [dermatologyadvisor.com]

• Weakness

  Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing.Other complications of Herlitz JEB can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities [icdlist.com]

  AR EBS with neuromuscular disease• Muscular dystrophy, Myasthenia gravis, SMA• Muscle weakness and wasting severe• Blisters over skin and mucosa• MR, atrohic scarring seen• Milia, nail dystrophy, alopecia 19. [slideshare.net]

  JEB-H skin will fail to reveal any staining with antibodies to laminin-332, whereas weak staining is usually seen from those JEB-nH patients having underlying laminin-332 mutations. [dermatologyadvisor.com]

  Finally, genotype-phenotype correlation, with the exception of EBS, is rather weak [ 3 ]. EB simplex As discussed in much greater detail within the 2008 consensus report [ 3 ], there is a wide range of cutaneous findings among the many EBS subtypes. [ojrd.biomedcentral.com]

• Disability

  EB ranges from being a minor inconvenience requiring modification of some activities, to being completely disabling and, in some cases, fatal. Friction causes blister formation. [rarediseases.org]

  Death and disability are highly variable according to type of disease. Death in infancy can occur from infection. [patient.info]

  Introduction The term epidermolysis bullosa (EB) was coined by Koebner in 1886 and describes a group of dermatological, genetically determined mechanical blistering diseases with varying course and severity ranging from minor disability to death within [scielo.org.co]

• Dyspnea

  Later, the child may show signs of increasing dyspnea, including stridor. [dermatologyadvisor.com]

• Vomiting

  She presented with episodes of abdominal pain that sometimes were associated with intractable vomiting. Investigation had not revealed a cause, suggesting a psychosomatic etiology. [kundoc.com]

  The day after he was born, an infant boy was observed to have nonbilious vomiting, choking after feeding, and abdominal distention with no meconium. [nejm.org]

  Case 2 - A 14 m girl presented with non-bilious vomiting and distended upper abdomen. USG and X-ray were suggestive of distended stomach. Gastroscopy revealed tight pyloric stenosis. [afrjpaedsurg.org]

  Intestinal obstruction was also found after the development of gastrointestinal symptoms including vomiting and abdominal distension. However, there was no ureterovesical obstruction in this case. [synapse.koreamed.org]

• Abdominal Distension

  On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction. [casereports.bmj.com]

  Intestinal obstruction was also found after the development of gastrointestinal symptoms including vomiting and abdominal distension. However, there was no ureterovesical obstruction in this case. [synapse.koreamed.org]

  Key words: abdominal distension, monozygotic twins, pyloric atresia. Get Full Access Gale offers a variety of resources for education, lifelong learning, and academic research. Log in through your library to get access to full content and features! [go.gale.com]

  Peeling skin in newborn with abdominal distension. Indian J Paediatr Dermatol 2016;17:29-31 How to cite this URL: Maitra SK, Das NK, Lal NR. Peeling skin in newborn with abdominal distension. [ijpd.in]

  Four patients had upper abdominal distension at the time of presentation and one presented with gastric perforation and signs of hypovolaemia. [afrjpaedsurg.org]

• Dental Caries

  Dental caries is the development of cavities in teeth. Gastrointestinal tract involvement (blisters in mouth, esophagus and/or anal margins). Ocular (eye) involvement. Genitourinary tract involvement may include scarring and/or urethral stenosis. [debra.org]

  Dental caries is the development of cavities in teeth. Gastrointestinal tract involvement (blisters in mouth, esophagus and/or anal margins). Ocular (eye) involvement. [blog.ebinfoworld.com]

  Good dental hygiene and regular dental checks are recommended. Many patients with JEB and DEB develop dental caries because of enamel defects. Oral mucosal involvement can accompany severe forms of JEB and DEB. [patient.info]

• Blister

  This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. [medlineplus.gov]

  Blisters Blisters must be lanced with a hypodermic needle to prevent them from spreading. The roof should be left on the blister. [gosh.nhs.uk]

  Blistering is usually present at birth, however, there have been instances of infants being discharged to home, with a small blister on the finger or lip. After they are home, the blistering becomes more apparent warranting a visit to the physician. [blog.ebinfoworld.com]

• Alopecia

  Other characteristic features of this condition include alopecia, malformed fingernails and toenails, and irregular tooth enamel. [icdlist.com]

  Presence of blisters on scalp and/or scarring alopecia (areas of scarring with absence of hair growth). Respiratory tract involvement. May be present in the more severely affected individual. [blog.ebinfoworld.com]

  Cicatricial JEB• Bistering heal with scarring and result in loss of nails, alopecia, syndactyly and contractures.• Involvement of oral mucosa with stenosis of anterior nares 40. [slideshare.net]

  […] croup, edema Hematologic Multifactorial anemia Musculoskeletal Growth retardation secondary to malnutrition Non Herlitz Variant Skin Bullae increased on extremities, heal with atrophic scarring; worse in warm envi¬ronment Nails Dystrophy Hair Scarring alopecia [cram.com]

• Skin Disease

  Renal involvement and continued failure to thrive accompanied the skin disease in survivors, who ranged in age from 30 days to 16 years (mean age, 4.0 years). [ncbi.nlm.nih.gov]

  Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance. [icdlist.com]

  Books about skin diseases See the DermNet NZ bookstore. [dermnetnz.org]

  […] severe forms of the disease. [patient.info]

• Pruritus

  Management of pain, pruritus, infection, scarring and deformities, malnutrition and anaemia all play a major part in the day to day treatment of RDEB. Squamous cell carcinomas are treated surgically. [dermnetnz.org]

  Improves during childhood and remits completely• Blisters heal without atrophic scarring 51. others• Pretibial dystrophic epidermolysis bullosa AD, late onset Itching, bullae, atrophy & scarring of shin• Epidermolysis bullosa pruriginosa Intractable pruritus [slideshare.net]

  […] additional recommendations for premedication; in general terms, avoid intramuscular injections, give atropine to the patient, prescribe an antacid due to the high risk of aspiration in EB, and prescribe also antihistamine in case the patient has findings of pruritus [scielo.org.co]

  DDEB pruriginosa is a more generalized subtype of DDEB which is characterized by severe, if not intractable, pruritus [ 54 ]. [ojrd.biomedcentral.com]

• Erythema

  NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases Acrodermatitis (Medical Encyclopedia) Cryotherapy (Medical Encyclopedia) Cutaneous skin tags (Medical Encyclopedia) Dry skin -- self-care (Medical Encyclopedia) Erythema multiforme [icdlist.com]

  Rest of the skin showed no evidence of erythema or inflammation. There was the absence of ectropion/eclabium, but Nikolsky's sign was present. There was sparing of palms and soles though dystrophy of nails was present. [ijpd.in]

  View Article PubMed Google Scholar Gu LH, Kim SC, Ichiki Y, et al: A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. [ojrd.biomedcentral.com]

• Joint Deformity

  Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing.Other complications of Herlitz JEB can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities [icdlist.com]

  Other complications of EB-PA can include fusion of the skin between the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). [medlineplus.gov]

• Suggestibility

  Abstract Immunofluorescence studies of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) have suggested abnormalities in the expression of the alpha6 beta4 integrin, an integral component of hemidesmosomes. [ncbi.nlm.nih.gov]

  Radiography of the abdomen while the patient was in the upright position revealed a single “bubble,” representing a dilated stomach with a fluid level, suggestive of congenital pyloric atresia, with a paucity of air distal to the stomach. [nejm.org]

  Investigation had not revealed a cause, suggesting a psychosomatic etiology. An electroencePhalogram was abnormal, suggesting that she might have psychomotor epilepsy. [kundoc.com]

  PA. [2] Evidence suggests that PA-EB association is a distinct entity and is now referred to as the PAEB syndrome. [3] We hereby present three cases of PA one of which was associated with EB. [afrjpaedsurg.org]

• Confusion

  However, in subsequent reports of consensus conferences, {12,11:Fine et al. (2000, 2008)} eliminated the term 'hemidesmosomal' because it added undue confusion. [diseaseinfosearch.org]

  […] duodenum. [3] Our finding agrees with reports in which type A is occurred most frequently. [2], [4] The typical presentation of PA is non-bilious vomiting soon after birth and minimal abdominal distension. [2], [5], [6] However, non-bilious vomiting may be confused [afrjpaedsurg.org]

  More than 30 types of epidermolysis bullosa have been described, rendering categorization of the types controversial and often confusing. [emedicine.medscape.com]

Keeping these differentials in mind further workup was done. Laboratory examination revealed leukocytosis, hyponatremia, and hypokalemia. Blood culture was negative. [ijpd.in]

An important part of the preoperative workup consists of assessing potential venous accesses, which may also be compromised due to the patient’s skin condition. [scielo.org.co]

• Hyponatremia

  Laboratory examination revealed leukocytosis, hyponatremia, and hypokalemia. Blood culture was negative. Straight X-ray of the abdomen of the baby revealed single gas shadow in upper abdomen with a single bubble appearance [Figure 2]. [ijpd.in]

There are no definite treatment modalities in the treatment of EB with pyloric atresia. The treatments are mainly symptomatic including conservative managements such as appropriate dressing, infection control and nutritional supplements. [synapse.koreamed.org]

Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients invariably present to the dermatologist for diagnosis and treatment. [books.google.com]

Is there a cure or treatment? Sadly at present there is no cure for EB. Research is progressing towards finding treatments to correct the faulty proteins responsible, but present treatment is to manage the symptoms. [gosh.nhs.uk]

CONCLUSIONS: The poor prognosis of this condition must be considered when decisions are made regarding surgical correction. [ncbi.nlm.nih.gov]

Early recognition is necessary for timely intervention, but prognosis can be serious and mortality is high. [dermweb.com]

Moreover, regular follow-up is needed because of the poor prognosis of this disease and the possibility of urologic complications such as ureterovesical obstruction. [synapse.koreamed.org]

Prognosis The prognosis of CPA is variable, depending on the presence or absence of severe associated anomalies 8,53. [journals.lww.com]

The familial occurrence in siblings and the association of the abnormality with hereditary epidermolysis bullosa suggests a genetic etiology. [jlc.jst.go.jp]

Investigation had not revealed a cause, suggesting a psychosomatic etiology. An electroencePhalogram was abnormal, suggesting that she might have psychomotor epilepsy. [kundoc.com]

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

Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy, New York: Springer Wien; 2009. [rarediseases.org]

The epidemiology of inherited epidermolysis bullosa: findings in the US, Canadian and European study population. In: Fine JD, Bauer EA, McGuire J, Moshell A, editors. [malattierare.regione.veneto.it]

Epidemiology Frequency United States The exact prevalence of epidermolysis bullosa is unknown. Mild variants have been estimated to occur as frequently as 1 per 50,000 births. [emedicine.medscape.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]

Epidemiology The most accurate epidemiological data are derived from the National EB registry project from USA and also from Scotland. [1], [4] According to the National EB registry project from USA, the incidence and prevalence of EB are estimated to [ijdvl.com]

Pediatr Dermtol 6:1–5 CrossRef Google Scholar Gedde-Dahl T Jr (1971) Epidermolysis bullosa: a clinical, genetic and epidemiological study. [doi.org]

The aim of this study was to analyze clinically and histopathologically eight cases with EB-PA-ACC belonging to an extended Bedouin family to gain insight into the cause and pathophysiology of the disease. [ncbi.nlm.nih.gov]

Newborn Surgery, Third Edition provides a comprehensive compendium of the pathophysiology, investigation and management of neonatal disorders. [books.google.com]

Dermatologic conditions, in neonatology pathophysiology and management of the new born. Edited by C.B. 2nd ed. Philadelphia, Lippincott, 1987, p. 1230. 11. Moazam, F. and Lakhani, M. Ethical dilemmas of health care in the developingnstion. 3. [jpma.org.pk]

Hands and fingers may be affected, as well as various joints. [2] Pathophysiology [ edit ] α6β4 integrin is a transmembrane protein found in hemidesmosomes. [en.wikipedia.org]

[…] reported in the literature so far. [3] Anatomically, PA is divided into 3 types pyloric membrane or web type I (57%), pyloric canal replaced by a solid cord of tissue type II (34%), PA with a gap or gap aplasia type III (9%). [6] Carmi suggested the pathophysiology [afrjpaedsurg.org]

Blisters Blisters must be lanced with a hypodermic needle to prevent them from spreading. The roof should be left on the blister. [gosh.nhs.uk]

It is important to understand this syndrome in order to anticipate medical complications and offer preventive strategies where possible. Prompt and expectant management of obstructive uropathy is crucial in these patients. [ncbi.nlm.nih.gov]

Some PLEC gene mutations prevent the cell from making any functional plectin, while other mutations result in an abnormal form of the protein. [medlineplus.gov]