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Hereditary Pancreatitis
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for hereditary pancreatitis include alcohol-related chronic pancreatitis, tropical pancreatitis, idiopathic chronic pancreatitis (a single occurrence of pancreatitis in a family without identifiable etiology), familial pancreatitis, syndromes with pancreatitis as a finding (e.g., Pearson marrow pancreas syndrome, CEL maturity-onset diabetes of the young [CEL-MODY], Johanson–Blizzard syndrome), and syndromes associated with pancreatic exocrine insufficiency (e.g., Shwachman−Diamond syndrome) [8].
Genodermatoses affecting the nail
Published in Eckart Haneke, Histopathology of the NailOnychopathology, 2017
It is characterized by localized absence of skin at birth or with a thin transparent membrane, through which the underlying structures are visible. In most cases, the scalp is involved, but rarely the distal extremities. In 20%–30%, the underlying bone is also affected.183 Both autosomal dominant as well as recessive inheritance have been reported. Bart syndrome (OMIM132000) is the association of epidermolysis bullosa of various types with skin aplasia and absence or deformity of the nails; it belongs into the epidermolysis bullosa group.184–186 Some other rare syndromes may also be associated with aplasia cutis congenita such as the scalp-ear-nipple syndrome Finlay-Marks (OMIM 181270),187 Adams-Oliver syndrome (OMIM 100300), Johanson-Blizzard syndrome (OMIM 243800), Fryns syndrome (OMIM 194190), dominant deafness and onychodystrophy (OMIM 124480), and nail dystrophy.188–191 The nail itself is not affected by aplasia.
Exocrine Pancreatic Insufficiency
Published in John F. Pohl, Christopher Jolley, Daniel Gelfond, Pediatric Gastroenterology, 2014
This rare autosomal recessive disorder is characterized by EPI and multiple congenital anomalies (aplasia or hypoplasia of the alae nasi, congenital deafness, microcephaly, midline ectodermal scalp defects, absence of permanent teeth, cardiac and urogenital malformations, imperforate anus), hypo-thyroidism, and developmental delay. Diabetes may develop over time. In contrast to SDS, children with Johanson–Blizzard syndrome do not have bone marrow and skeletal abnormalities. New studies have shown mutation in the ubiquitin E3 ligase UBR1 gene in these patients and possibly intrauterine destruction of the pancreas.
Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing
Published in Critical Reviews in Clinical Laboratory Sciences, 2023
Tatiana N. Yuzyuk, Heather A. Nelson, Lisa M. Johnson
Johanson-Blizzard syndrome is an autosomal recessive disorder caused by variants in the E3 ubiquitin ligase, UBR1 [66]. UBR1 is one of four ubiquitin ligases of the N-end rule pathway, an evolutionary conserved proteolytic pathway involved in ubiquitin-mediated protein degradation. The clinical hallmarks of this disorder are facial characteristics (nasal wing hypo-/aplasia) and EPI [66,67]. The underlying pathogenetic mechanism for EPI appears to be inflammatory damage of acinar cells at prenatal onset [67–69].
Hypohidrotic ectodermal dysplasia: a case report
Published in Orbit, 2020
HED is the most common type of ED, characterized by a triad of symptoms, comprising sparse hair growth (hypotrichosis), complete or partial absence of teeth (anodontia or hypodontia), and inability to sweat or diminished sweating (anhidrosis or hypohidrosis).6 HED was first reported in 1929 by Weech and is therefore known as Weech syndrome.1 Mutations in the EDA, EDAR, and DARADD genes cause HED.3,5 These genes encode a transmembrane protein, ectodysplasin-A of the tumor necrosis factor superfamily, which forms a part of the signaling pathway that is critical for the interaction between the ectoderm and mesoderm during embryogenesis.2,5 Mutations in these genes prevent normal interactions between the ectoderm and the mesoderm and normal development of the skin, hair, sweat glands, and teeth. HED is most frequently inherited in an X-linked manner, followed by an autosomal dominant or recessive pattern.2 Its prevalence is approximately 1 in every 100,000 live births.4 The disease typically manifests in men while women act as carriers. Most types of ED share common features. Ocular manifestations may vary with the type of ED. ED influences the development or function of the ocular tissues originating from the ectodermal layer; however, not all ocular tissues derived from the ectoderm are affected in all cases. The reported ocular manifestations of HED are madarosis, deficient meibomian glands, blepharitis, hypoplasia of the lacrimal glands, dry eye, entropion, ectropion, ankyloblepharon, eyelid cysts, blepharophimosis, periorbital hyperpigmentation, agenesis of the lacrimal puncta, hypoplastic NLD, dacryocystitis, strabismus, conjunctivitis, glaucoma, limbal stem cell deficiency, corneal opacity, corneal pannus, decreased corneal sensations, microphthalmia, cataract, and telecanthus.3–10 Primary acquired NLD obstruction may develop in ED because of a congenital malformation in NLD. Secondary acquired NLD obstruction in HED may develop from atrophic rhinitis, which is a common condition associated with HED.1 Similar to the ectrodactyly–ED–cleft lip/palate (EEC) syndrome, HED could be etiologically associated with syndromic congenital NLD obstruction in the present case.11,12 Dry eye and NLD obstruction may co-exist in patients with HED; therefore, DCT is a viable option in these patients. Differential diagnoses of HED include focal dermal hypoplasia, Hutchinson–Gilford progeria syndrome, Rothmund–Thomson syndrome, ichthyosis follicularis, Bowen–Armstrong syndrome, CHAND syndrome, nail dysplasia syndrome, and Johanson–Blizzard syndrome.1 There are no specific treatments for patients with HED. Genetic counseling is the central component of the preventive measures against the condition. Owing to the lack of well-defined eyebrows and eyelashes, ocular foreign bodies are common in these patients. Protective glasses with side covers are essentially helpful in preserving ocular moisture and protecting the eyes from foreign bodies. Ophthalmic management predominantly focuses on symptomatic relief of dry eye and prevention of keratopathy. Early recognition of ED may lead to more effective treatment interventions by a pediatrician, dentist, ophthalmologist, and dermatologist.5