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Paper text:
a 50-year - old man presented with congenital scaling and hyperkeratosis on his palms , the soles of his feet and the extensor areas of his joints .
the patient reported that his skin condition had significantly improved after he spent time at the dead sea .
his maternal grandmother , questionably his maternal uncle , his mother , all three brothers , one of his two sisters as well as two nephews and three nieces have or had similar skin changes . on examination
, the palms showed significant hyperlinearity with strong desquamation , hyperkeratosis and fissures ( fig .
1c ) , the buttocks , the palms and the extensor surfaces of the metacarpophalangeal joints . a punch biopsy taken from the left palm showed orthohyperkeratosis , which was shifted upwards by a hyperparakeratotic layer .
the epidermis exhibited psoriasiform akanthopapillomatosis , partly with hypergranulosis and partly with diminished stratum granulosum .
intra- and extracellular lipid inclusions as well as segmental amyloid deposits in the upper dermis were detected ( fig .
the amyloid deposits were most likely secondary to chronic inflammation due to the epidermal barrier changes .
the clinical and histological signs led to the diagnosis of erythrodermia congenitalis ichthyosiformis bullosa of brocq .
we confirmed this genetically and found a heterozygous duplication ( c.1752dupt ) in the keratin 1 gene ( krt-1 ) .
the hands and feet were treated with urea and salicylic acid - containing ointments , for the rest of the body ointments consisting of vaseline and lanolin ( unguentum molle ) were used .
bath puva therapy was initiated for the hands and feet . additionally , systemic treatment with acitretin 20 mg once daily was started .
ichthyoses are genetic disorders of keratinization with often generalized , abnormally dry , scaly skin and hyperkeratosis .
ichthyoses can be divided into two main groups : non - congenital ichthyoses , which develop in the first weeks or months after birth ( vulgar ichthyoses ) , and congenital ichthyoses , which are clinically seen at the day of birth [ 1 , 2 , 3 ] .
erythrodermia congenitalis ichthyosiformis bullosa of brocq is a congenital ichthyosis caused by autosomal dominant and spontaneous mutations of keratin genes krt-1 and krt-10 .
clinically , this skin condition shows generalized erythema and erosions or blistering at the day of birth .
later , verrucous hyperkeratosis can often be found at the neck , the flexural areas as well as the palms and soles ( especially in patients with krt-1 mutations ) [ 1 , 2 , 3 , 4 ] . to our knowledge , this is the first case of this skin condition reported in the literature with a heterozygous duplication ( c.1752dupt ) in krt-1 .
a 50-year - old man presented with congenital scaling and hyperkeratosis on his palms , the soles of his feet and the extensor areas of his joints . 
 the flexural areas were unaffected . 
 his maternal grandmother , questionably his maternal uncle , his mother , all three brothers , one of his two sisters as well as two nephews and three nieces have or had similar skin changes . 
 a punch biopsy was taken from the left palm . 
 clinical and histological signs led to the diagnosis of erythrodermia congenitalis ichthyosiformis bullosa of brocq . 
 we confirmed this genetically and found a heterozygous duplication ( c.1752dupt ) in the keratin 1 gene ( krt-1 ) . to our knowledge , this is the first case of this skin condition reported in the literature with a heterozygous duplication ( c.1752dupt ) in krt-1 .