Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.

[kindler syndrome]

Kindler syndrome (KS ) is a heritable skin disorder with a complex phenotype consisting of congenital skin blistering , photosensitivity , progressive generalized poikiloderma and extensive skin atrophy . Here we describe 2 siblings with KS , who are , to the best of our knowledge , the oldest patients reported so far in the literature . The diagnosis was established in their seventh and eighth decades of life , and confirmed by mutation analysis . Both patients were homozygous for the recurrent FERMT 1 mutation , c .328 C â†’T , p .R 110 X . Because of a relatively mild course of the disease , mucosal membranes in the eyes and oesophagus being predominantly affected in recent years , they had been treated under other diagnoses , such as scleroderma . Cutaneous precancerous lesions and epithelial skin cancer arose in both siblings after the age of 50 years and were treated in an early stage . Taken together , we describe the natural course of KS , the morphological abnormalities occurring in the skin of older KS patients , we discuss the differential diagnosis and the association between KS and squamous cell carcinoma .

Diseases
Validation

Diseases presenting "early stage" symptom

adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

aromatase deficiency

cadasil

carcinoma of the gallbladder

child syndrome

cholangiocarcinoma

congenital adrenal hyperplasia

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

harlequin ichthyosis

hereditary cerebral hemorrhage with amyloidosis

hodgkin lymphoma, classical

kindler syndrome

lymphangioleiomyomatosis

neonatal adrenoleukodystrophy

pyomyositis

scrub typhus

sneddon syndrome

typhoid

von hippel-lindau disease

zellweger syndrome

You can validate or delete this automatically detected symptom