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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.