Symptoms related to Adult junctional epidermolysis bullosa include: Connective tissue symptoms Head abnormality Teeth abnormality Oral Mucosal Blisters Limb abnormality Abdominal abnormality Genitourinary system abnormality Urethra abnormality Immune [familydiagnosis.com]

It is characterized by generalized cutaneous blister formation from birth, nail dystrophy, hair loss, and abnormal teeth. In addition, some patients have large melanocytic nevi that form at sites of prior blisters. [cags.org.ae]

Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by [ncbi.nlm.nih.gov]

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 [ncbi.nlm.nih.gov]

Other complications of Herlitz JEB can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). [ghr.nlm.nih.gov]

deformities (contractures) that restrict movement, and eye inflammation leading to vision loss Additionally, young adults with the classic form of dystrophic epidermolysis bullosa have a very high risk of developing squamous cell carcinoma, which tends [pcds.org.uk]

Good practice points Bone health should be optimized with calcium and vitamin D supplements as needed, maintenance of maximum mobility, minimization of joint deformity and monitoring for/treatment of pubertal delay. [bmcmedicine.biomedcentral.com]

Those with EBS may have thickened calluses on the palms and soles, oral blistering during infancy and rough, thickened fingernails/toenails. EBS does not usually scar. There are rare recessive forms. [rarediseases.org]

The blisters then occurred only on the extremities and until adult age, no oral blisters developed. The toenails were dystrophic and the finger nails largely normal, despite repeated loss of individual nails. [nature.com]

Oral blistering was rare, and esophagus involvement was not observed. Thus, this patient showed the characteristic clinical phenotype of localized EBD. [academic.oup.com]

Sucralfate suspension has been used to prevent and manage oral blisters in five children, 6- to 11-years-old, with RDEB when applied four times a day for six months [ 99 ]. [bmcmedicine.biomedcentral.com]

Patient 3 had the localisata variant of JEB, with predominantly acral blistering and normal hair. [ncbi.nlm.nih.gov]

Palmar hyperhidrosis MedGen UID: 346478 • Concept ID: C1856953 • Finding Plantar hyperkeratosis MedGen UID: 341658 • Concept ID: C1856954 • Finding Hyperkeratosis affecting the sole of the foot. [ncbi.nlm.nih.gov]

Palmar hyperhidrosis MedGen UID: 346478 • Concept ID: C1856953 • Finding Plantar hyperkeratosis MedGen UID: 341658 • Concept ID: C1856954 • Finding Hyperkeratosis affecting the sole of the foot. [ncbi.nlm.nih.gov]

The lesions healed without scarring or milia but with atrophic skin to variable degrees, and some pigmented maculae closely resembling those in the phenotype known as GABEB ( Hashimoto et al, 1976 ; Hintner and Wolff, 1982 ). [nature.com]