Restrictive dermopathy is a rare and lethal autosomal recessive genodermatosis characterized by tight skin, typical dysmorphic face, generalized arthrogryposis and pulmonary hypoplasia. Infants with restrictive dermopathy have similar findings in skin biopsy, but other abnormalities are unremarkable. We report a male preterm infant with restrictive dermopathy. The post-mortem examination reveal...

Incontinentia pigmenti (IP) is a complex genodermatosis inherited in an X-linked dominant pattern, associating multistadial cutaneous manifestations with an oculo-dento-cerebral syndrome, which affects only female newborns, as the disorder is lethal in males since intrauterine period. We report on a case of incontinentia pigmenti with an atypical debut consisting of tonic-clonic seizures which ...

Galli-Galli disease is a rare genodermatosis currently regarded as an acantholytic variant of Dowling-Degos disease. The 2 diseases have the same clinical features: reticular hyperpigmented macules in the great skin folds, erythematous scaly papules and plaques, comedo-like lesions, and pitted perioral scars, and the only differentiating characteristic is the histological finding of acantholysi...

Familial progressive hyperpigmentation (FPH) is a rare genodermatosis characterized by hyperpigmented patches in the skin and mucous membranes, present in early infancy, and increase in size and number with age. The genetic basis for FPH remains unknown. We report an unusual case of familial progressive hypermelanosis in a 17-year-old male patient with family history, who presented with a pecul...

Porokeratosis is a genodermatosis characterized by abnormal epidermal keratinization with the histological feature of cornoid lamella. There are many clinical variants, but two or more of these variants rarely occur in a single patient. This variation in clinical presentation may be due to the different phenotypic expression of a common genetic abnormality or may be the consequence of abnormali...

incontinentia pigmenti (ip) is an x-linked dominant genodermatosis characterized by typical skin lesions along blaschko's lines and associated with ocular, dental, nails, hair, skeletal, central nervous system and cardiovascular anomalies. we report a 5-year-old boy with cutaneous hyperpigmentation along blaschko's lines, atrophic streaks, strabismus and mental retardation. he showed the charac...

Rothmund–Thomson syndrome is a rare autosomal recessive genodermatosis characterized by early onset of poikiloderma and several other cutaneous and organ involvements. We are going to report a 14-year-old girl who has been diagnosed with Rothmund– Thomson syndrome since she was 3 years old and has been suffering from pain and swelling of the right elbow and forearm for about 6 months. There are...

Kindler syndrome (KS) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. It affects the skin, mucous membranes, and oral cavity and is caused by mutations in the KIND1 gene on 20p12.3. The first case of KS associated with periodontitis was reported in 1996, and have been infrequ...

Segmental neurofibromatosis or type V neurofibromatosis is a rare genodermatosis characterized by neurofibromas, café-au-lait spots and neurofibromas limited to a circumscribed body region. The disease may be associated with systemic involvement and malignancies. The disorder has not been reported yet in the Polish medical literature. A 63-year-old Caucasian woman presented with a 20-year histo...

Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3'-5' DNA exonuclease. Thus, familial chilblain lupus r...