ARTICLE
In adults the typical symptoms of coeliac disease are well known: diarrhoea,
loss of weight, weakness. In the last two decades many unusual forms have
been reported, clinically characterized by: sideropenic anaemia, neurological
signs, dental enamel changes, autoimmune diseases, low bone-mineral density,
pericarditis and infertility. Occasionally, the skin can be the primarily
involved site of this affection. Dermatitis herpetiformis is, in fact,
considered a clinical manifestation of coeliac disease rather than an
associated condition [1]. Our unusual case concerns a subject with coeliac
disease revealed by the sudden appearance of a keratinization disorder.
Case report
A twenty-nine year-old woman presented a lamellar scaling lasting for
some months on abdominal (Fig.
1), submammary regions and on the dorsal aspect of the limbs.
The major folds were uninvolved. Slight palmar hyperlinearity was also
detectable. During recent years the patient, normal in weight and height,
suffered neither from bowel disorders, nor from dry skin. Family history
of ichthyosis vulgaris was not present.
Laboratory tests revealed mild sideremia (16 ug/dl) and low levels of
ferritin (< 3 ng/ml), haemoglobin (10.4 gr/dl), haematocrit (32.5%)
and zinc (51 ug/ml). Seric calcium, inorganic phosphorus, alkaline phosphatase
and non esterified fatty acids (NEFA) were normal. Parathormone values
were 74 pg/ml (nv 10-65). Vertebral total bone-mineral density was 0.816
gr/cm2, about 78% of normal levels for healthy young adults.
Antiendomysial antibodies were positive at high titer. A duodenal mucous
membrane specimen showed total atrophy of the villi. Skin biopsy of an
abdominal scaling lesion revealed orthokeratotic hyperkeratosis and thinning
of the granular layer.
Ultrastructural examination showed a horny stratum consisting of about
15 rows of keratinocytes with a normal marginal band and homogeneous keratinic
pattern. The granular layer was composed of one row of cells. The granules
of keratohyalin, roundish in shape, were strongly reduced in number and
size, without matrix alteration and without a crumbly or spongy appearence.
The keratinosomes appeared normal (Fig.
2).
A gluten-free diet, supported by folic acid and vitamin D gave excellent
results. Six months later the patient showed normal seric values; only
hyposideraemia, a slight increase of parathormone and low bone-mineral
density persisted. Milder lamellar scaling was still detectable.
Discussion
Acquired ichthyosis often shows clinical and histological features of
ichthyosis vulgaris and the ultrastructural examination alone can reveal
whether it is a previously misdiagnosed ichthyosis vulgaris. The defects
of keratoyalin granules (reduction in number and size) in our case are
suggestive of an ichthyosis vulgaris [2]. Nevertheless, the absence of
matrix alteration and the crumbly and spongy appearence of keratoyalin
granules is indicative of an acquired ichthyosis mimicking an ichthyosis
vulgaris.
The detection of an acquired ichthyosis should always alert the physician
to investigate the possibility of an underlying disease [3, 4]. The link
between acquired ichthyosis and malignant lymphoproliferative [5], endocrine
[6, 7], autoimmune [8, 9], renal [10] and infectious diseases [11], malnutrition
[4], cholesterol-lowering drugs [12] is well documented. The association
with bowel disorders such as Crohn's disease, proctocolitis, intestinal
by-pass, partial gastrectomy and coeliac disease is also reported [13].
A pathogenetic explanation of our case is difficult to give. It is interesting
to point out the good resolution of cutaneous symptoms after the regression
of secondary hyperparathyroidism. This fact confirms the link between
disorders of keratinization and endocrine diseases.
A case of ichthyosis associated with familiar hyperparathyroidism and
parathyroid carcinoma [14] as well as an acquired ichthyosis in a patient
affected by tertiary hyperparathyroidism [7] are reported in the literature.
Milstone et al. [15] described 15 subjects with various disorders
of keratinization showing high levels of parathormone and suggested an
increased risk of secondary hyperparathyroidism in these patients. At
present, however, it is not possible to state a true relationship between
high values of parathormone and some keratinization disorders.
Article accepted on 5/4/00
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