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Advances in dermatology and venereology Acta Dermato-Venereologica
Ichthyosis with Confetti Inherited from a Mosaic Father
Kristine A . U . PALLESEN 1 , Ole CLEMMENSEN 2 , Judith FISCHER 3 , Jens Michael HERTZ 4 and Anette BYGUM 1 Departments of 1 Dermatology and Allergy Centre , 2 Clinical Pathology and 4 Clinical Genetics , Odense University Hospital , DK-5000 Odense , Denmark , and 3 Institute for Human Genetics , Medical Center – University of Freiburg , Freiburg , Germany . E-mail : Kristine _ pallesen @ hotmail . com Accepted Aug 23 , 2017 ; Epub ahead of print Aug 23 , 2017
Ichthyosis with confetti ( IWC ), also known as congenital reticular ichthyosiform erythroderma ( CRIE ) or ichthyosis variegata , is an autosomal dominant form of congenital ichthyosis . It is extremely rare , with fewer than 50 cases reported in the world literature ( 1 – 7 ).
Children are born as collodion babies or with ichthyosiform erythroderma . Later in childhood , the classic confetti-like spots of healthy-looking wild-type skin develop due to revertant mosaicism , which are clues to the diagnosis . Histopathological examination of a skin biopsy will show very characteristic vacuolar changes of the keratinocytes in the superficial epidermis . The diagnosis can be confirmed by genetic analysis .
CASE REPORTS
A collodion baby ( Fig . 1A ) was born at term . She persistently had scaly erythroderma , palmoplantar keratoderma , nail dystrophy and malformed pinnae , ectropion and mammillae hypoplasia . At the age of 2 years it was evident that she had hypotrichosis on the scalp , sparse eyebrows and eyelashes , and moderate hypertrichosis on the body . At the age of 3 years small pale confetti-like spots appeared on her skin ( Fig . 1B ). She was persistently growth retarded , with length approximately – 2 standard deviations ( SD ) and weight approximately – 3 SD . Sequencing of genomic DNA extracted from peripheral blood lymphocytes demonstrated a KRT10 mutation : c . 1374-1G > A in intron 6 , in heterozygous form .
The patient ’ s father was 45 years of age , and had acral linear hyperkeratosis and palmoplantar keratoderma ( Fig . 1C ). In childhood he had been wrongly diagnosed and published as having incontinentia pigmenti ( 8 ); however , at that time no genetic data were available . Later on the following diagnoses were considered based on clinical and histopathological features : naevus unius lateris , ichthyosis hystrix , and linear porokeratosis . His skin at birth was described by his parents to be oedematous with occasional blistering . He subsequently developed palmoplantar keratoderma and patchy keratotic plaques and Blaschko-linear verrucous hyperkeratosis on his extremities .
Several skin biopsies from the father had been taken over the years from the verrucous , linear lesions and the palmoplantar keratoderma . Some of these biopsies were available for review , and showed essentially similar changes , such as features of porokeratosis ( papillomatosis , hyperkeratosis with cornoid lamellar changes and vacuolar changes of keratinocytes in the decreased granular layer ), as well as features of epidermolytic hyperkeratosis / ichthyosis hystrix ( vacuolar changes of
keratinocytes in the upper spinous zone , but not confluent and without clumping of keratohyalin granules ). The histo pathology , however , was not diagnostic for either of these conditions . A skin biopsy from the daughter revealed the same characteristic vacuolar changes of the superficial keratinocytes , but with much less hyperkeratosis . No definitive diagnosis was made .
A diagnosis of IWC was suggested , based on clinical background , and the biopsies from both patients were reviewed . The changes in the biopsies were found to be identical and diagnostic of IWC ( Fig . S1 1 ).
1 https :// www . medicaljournals . se / acta / content / abstract / 10.2340 / 00015555-2776
Fig . 1 . Clinical features . ( A ) Index patient who presented as a collodion baby at birth and ( B ) 3 years later with ichthyosis with confetti . ( C ) Mosaic father presenting with Blaschko-linear verrucous and patchy hyperkeratosis as well as palmoplantar keratoderma . A written permission from the parents is given to publish these photos . doi : 10.2340 / 00015555-2776 Acta Derm Venereol 2018 ; 98 : 130 – 131
This is an open access article under the CC BY-NC license . www . medicaljournals . se / acta Journal Compilation © 2018 Acta Dermato-Venereologica .