BritishJournalofDermatology (1991) 124, 191-194.

ADONIS O0O7O96391DO042M

Autosomal dominant ichthyosis exfoliativa F.VAKILZADEH AND G.KOLDE* Department of Dermatology. General Hospital of Hildesheim. Hildesheim. Germany * Department of Dermatology. University of Munster, Munster. Germany Accepted for publication 1 i August 1990

Summary

An unusual ichthyosiform dermatosis with circumscribed areas of blistering hyperkeratoses as well as scaly areas was observed in five consecutive generations of a tJerman family. Light and electron microscopical studies revealed oedema of the keratinocytes in the upper epidermis but no defects of tonofilaments and keratohyalin granules. We suggest that this type of ichthyosis exfoliativa inherited as an autosomal dominant trait represents a new and distinct entity.

Blistering is a rare event in the ichthyosiform dermatoses. but superficial blisters typically occur in cases of bullous ichthyosiform erythroderma that at birth have red. moist and tender areas of skin and later develop hyperkeratotic lesions and occasional blisters.' The other disorder of keratinization that is characterized with intraepidermal vesicles is ichthyosis bullosa of Siemens.-^ that was first described 50 years ago and was only recently observed in a second family.' We report what we consider to be a distinct entity of an ichthyosis with exfoliative blistering which showed clinical similarities to ichthyosis bullosa. but with distinct histological features.

Case reports The ichthyosiform dermatosis was observed in four members of a German family. The pedigree ofthis family is shown in Figure I and the tirst case, her brother and her two children ali had similar skin lesions. Her father, grandmother and great-grandfather as well as other relatives were known to have a similar ichthyosiform dermatosis.

scales that covered the entire body apart from the face (Fig. 2). Dark grey hyperkeratotic areas were present on the waist, in the axillae and on the extensor and flexor surfaces of the elbows and knees, as well as the backs of the hands and the feet. At these sites there were occasional superficial blisters with denuded areas of skin. There were no abnormalities of the nails and hair. All the routine laboratory investigations were within the normal range. Case 2

This 31-year-old brother of Case 1 had similar skin lesions since birth and had noted that the blisters became less frequent as he got older. The skin was dry and scaly afi over (Fig. 3| apart from the face. Similar dark grey hyperkeratotic areas were present in this patient. The volar surfaces of the fingers had linear longitudinal hyperkeratoses. There was no other abnormality and all the laboratory investigations were normal.

Case 1

This 32-year-old woman was admitted with an ichthyosiform dermatosis that was present from birth. The patient had noticed an increased susceptibility of the skin to blister with trivial trauma. There were spontaneous blisters, especially during the summer and these blisters healed without scarring. On examination there were fine Correspondence: Dr Cerhard kolde. Departmenl of Dermatology. University ol' Munster, Von lismarch Stras.sc 5(i. 1M4()() Munster. C.ermany.

Figure 1. Pedigree showing transmission of ichthyosiform dermatosis in live generations. • aft'ected male, • affected female. — Case 1, * examined family members.

191

192

E. VAKILZADEH AND G. KOLDE

Klgure 2. Case I. Hyperkeralotif lesions with denuded areas on (a| the elbow and |b) the ankle.

I Igure i. Case 2. (a) Circumscribed liyperkeratosis in the axilla. Ib) Superficial blistering nn dorsum of foot.

Case 3

The 13-year-old daughter of Case 1 had ichthyosiform dermatosis with increased fragility ofthe skin since birth. There was fine scaling of the skin with hyperkeratotic lesions in the axillae, on the elbows, knees and the backs ofthe hands and feet. There were numerous superficial blisters as well as denuded areas ofthe skin. Case 4

The 6-year-old son of Case I had dry and scaly skin since birth. The hyperkeratotic lesions in this patients were

less pronounced than any ofthe other cases, but had a similar distribution. Also multiple superficial blisters were seen in this case.

Histopathological studies

Multiple skin biopsies were obtained from Cases 1 and 2 and processed for light and electron microscopy. Ali the biopsies showed similar histopatbological changes and there was no significant difference between those specimens taken from the hyperkeratotic areas and from the scaly skin.

AUTOSOMAL DOMINANT ICHTHYOSIS EXFOLIATIVA

E inure 4. Skin biopsy of hyperkeratotic area showing markedly swollen keratinocytes in ihe upper spinous and granular cell layers ( x4()). Inset; higher niagnitieation showing oi-dematous keratinocytes ( x22()|.

There was marked acanthosis and hyperkeratosis of the epidermis (l-'ig. 4) and these were most pronounced in the hyperkeratotic areas. The keratinocytes in the granular and upper spinous layer showed marked oedema. The nuclei of the cells were small and hyper-

Hgure 5. Electron micrograph showing marked intracellular oedema withoul any structural defect ofthe tonofilaments I x 64001.

193

chromatic and the eells contained a few small keratohyalin granules. Due to the marked intracellular oedema, the cell boundaries often appeared to be indistinct. Small blisters were occasionally found directly beneath the horny layer. The basal and suprabasal keratinocytes appeared normal and there was no spongiosis. The mitotic activity ofthe epidermis was slightly increased. A few mononuclear inflammatory cells were seen in the upper dermis. On electron microscopy, the eells ofthe granular and spinous layer were characterized by marked oedema of the cytoplasm that contained lew organelles and the small mitochondria were sometimes swofien (Eig. 5). The number of tonofilaments and keratohyalin granules were markedly reduced with no grouping ofthe tonofilaments. The lew tonofilament bundles that were localized at the periphery ofthe cell showed a regular insertion into the desmosomai plates. Occasionally ruptured keratinocytes with fragmented plasma membranes were seen.

Discussion The ichthyosiform dermatosis described in this report occurred in five consecutive generations of a family and this strongly suggests an autosomal dominant mode of inheritance. The skin lesions showed some resemblance to ichthyosis bullosa of Siemens.-' and. as in this type of ichthyosis. there were dark grey hyperkeratotic areas in a generalized but circumscribed distribution with superficial blistering of the skin that occurred either spontaneously or after trivial trauma. However in our patient, in addition to these features there was a tine light scafing of the skin that resembled that seen in the autosomal dominant type of ichthyosis vulgaris.' In our patient the ichthyosiform dermatosis was present at birth and those cases as described by Siemens, developed the condition in the first year of life.' The pathological features of ichthyosis bullosa o\' Siemens are unclear, but the blistering was reported to occur in the stratum corneum and the stratum granulosum ofthe ichthyotic skin.- In contrast the second report of this disorder' showed the typical histoiogical and the ultrastructural features of epidermolytic hyperkeratosis with cytoplasmic oedema, thickened bundles of tonofilaments. clumps of irregular tonofilaments and coarse keratohyalin granules. These pathological changes are also found in bullous ichthyosiform erythroderma. which at birth has often generalized superficial blistering ofthe skin and later on the patient develops verrucous or hyperkeratotic skin lesions and occasional blisters.' "^'^

194

F. VAKILZADEH AND G. KOLDE

Because of the similarity of the pathological and clinical findings, we may speculate'' that the dermatosis of Traupe cf «/.' represents a minor form of bullous ichthyosiform erythroderma. The histopathoiogicai findings in our cases both from the hyperkeratotie and scaly areas showed the same features, and there was no clumping and 'shell' formation of the tonofilaments and no coarse keratohyalin as seen in the bullous type of ichthyosiform erythroderma"*'^ and the dermatosis of Traupe et al.^ In conclusion, our family with autosomal dominant ichthyosis exfoliativa show some clinical similarities to ichthyosis huUosa of Siemens, but the histopathoiogicai findings as seen on both light and electron microscopy suggest that it is different and a distinct entity.

References 1 Baden HP, Ichthyosiform dL-rmatoses, In: Dernuitoloim m Cenerat Medicine (Fitzpatrick TB, (•:iscn AZ. Wolff K. Freedberg IM, Austen KF. eds). 3rd edn, Vol 1, New York: McCraw-Hill Book Company. 1987: Wb-\7. 2 Siemens HW, Dichtuni- und Wahrheit ubcr die 'k-hthyosis hullosa", mit liemerkuEigen zur Systcmatik tier Kpidcrniolysen, Arch Dermatol Syph (Herl) 19i7: 175: 59O-f)OS. i Traupe H, Kolde G. Hamm H, Happle R, Ichthyosis bulliisa of Siemens: a unique type of epidermoiytic hyperkeratosis, / Am Acud Dermatol I98fv 14: 1

Autosomal dominant ichthyosis exfoliativa.

An unusual ichthyosiform dermatosis with circumscribed areas of blistering hyperkeratoses as well as scaly areas was observed in five consecutive gene...
1MB Sizes 0 Downloads 0 Views