Inherited syndrome of unknown inheritance
pattern 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.
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
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.
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. 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 options. Careful lubrication and
padding of contact surfaces to reduce shearing forces and epithelial injury.
Epidermolysis Bullosa: A genetic disorder characterized by cutaneous
blistering and scarring following already minor trauma. There are more than 20
different subtypes of the disease.
Pemphigoid: A chronic, nonhereditary blistering disease of skin and mucosae.
Pemphigus: An autoimmune blistering disease of the skin and mucous membranes.
Rothmund-Thomson Syndrome: Autosomal recessive disorder
characterized by early photosensitivity as a consequence ...