It is a syndrome characterized by neonatal skin blistering on the extremities, appearing spontaneously, and after minor trauma. Other features include limb hyperkeratosis, mucous membrane fragility with esophageal and urethral strictures, and webbing of the fingers and the toes. The inheritance pattern is not known.
Bullous Acrokeratotic Poikiloderma of Kindler and Weary; Congenital Bullous Poikiloderma; Congenital Poikiloderma with Bullae, Weary Type; Hereditary Acrokeratotic Poikiloderma.
The exact number of affected individuals unknown. Approximately 15 cases have been reported in the literature.
Presumed autosomal recessive inheritance.
Ultrastructural examination of the skin of affected patients shows marked basement membrane reduplication and variable levels of cleavage at the dermal-epidermal junction. It has been shown that the underlying molecular pathology involves loss-of-function mutations in a novel gene, KIND1, encoding kindlin-1, which is mainly expressed in basal keratinocytes and plays a role in the attachment of the actin cytoskeleton to the extracellular matrix via focal contacts. This makes Kindler Syndrome the first genodermatosis that is caused by a defect in actin-extracellular matrix linkage rather than the classic keratin-extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa.
Characteristic skin lesions that vary considerably in their expression: vesiculopustular lesions on the hands and feet that resolve by late childhood; widespread eczematoid dermatitis that resolves by age 5 years; diffuse poikiloderma with striate and reticulate atrophy that develops gradually, but spares the face, scalp, and ears, and persists into adulthood; keratotic papules on the hands, feet, elbows, and knees that appear before the age of 5 years and persist indefinitely; traumatic bullae at pressure sites that heal with atrophic scars. Patients are extremely photosensitive.
Intravenous access may be difficult. Adhesive tape used to secure intravascular catheters, endotracheal tubes, and other monitoring devices may cause skin damage and it is recommended not to use. Repeated scarring from healed bullae on the skin and mucosal surfaces can result in reduced mobility of joints and narrowed mouth opening. Individuals affected with this condition have limited mouth opening, ankyloglossia, dental overbite, and atrophy of the buccal mucosa. Difficult airway management is expected in such a case. Bullae in the oropharynx and hypopharynx may be ruptured with spillage of serosanguineous fluid into the airway. Oral fiberoptic tracheal intubation will necessitate careful lubrification of the laryngoscope and tracheal tube with a water-based lubricant. Fixation of the tube must be done without the use of skin tape but rather with a lubricated string. Contracture of other joints makes proper positioning difficult. Application of a face-mask or noninvasive blood pressure cuff may cause trauma and bullae formation. Needle electrodes, sutures, and/or rolls of gauze dressing to secure devices are ...