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A 31-year-old male who had been suffering from ichthyosis vulgaris developed hyperkeratosic lesions on the palms and soles and ungual alterations of both hands and feet. These lesions were resistant to topical corticosteroid and emollient cream treatments and were found to be caused by Trichophyton rubrum. Association of ichthyosis vulgaris and dermatophytosis--both very common disorders--is to our knowledge a very rare event.
BACKGROUND: Vitamin D is essential for bone mineralization, and its deficiency may be the cause of skeletal fractures and osteomalacia. Geographical or ethnic factors may modulate the cutaneous synthesis of vitamin D. We hypothesized that major changes in keratinization may similarly alter the cutaneous synthesis of vitamin D. OBJECTIVES: To explore calciotrophic hormones, parameters of bone remodelling and bone mineral density (BMD) in nine patients with non-bullous congenital ichthyosis. PATIENTS AND METHODS: Six patients were European, three were North African. Four had received acitretin over a long period of time. A complete biological investigation, including serum and urinary calcium and phosphorus, calciotrophic hormones [intact parathyroid hormone (iPTH), 25-hydroxyvitamin D (25-(OH)D) and 1,25-dihydroxyvitamin D (1,25-(OH)2D)], bone formation and resorption markers, was performed on all patients during the winter season and repeated among four patients after summer. BMD was measured in all patients. RESULTS: All patients had a marked 25-(OH)D deficiency, clearly below the deficiency threshold of 25 nmol/L. Patients from North Africa had a greater deficiency than European patients, perhaps because of the difference in skin pigmentation. iPTH remained normal in European patients but was elevated among the North Africans. After sun exposure, an improvement in vitamin status was visible in only one patient. Bone formation and resorption markers remained normal. Femoral neck osteodensitometry indicated values near the osteopaenic threshold in two young North African females. No deleterious effect of retinoids on vitamin D metabolism was observed. CONCLUSION: Patients, and in particular pigmented patients, with congenital ichthyosis present a severe deficiency in vitamin D. Care provided to protect the skeletal future of these patients involves measuring BMD and prescribing supplementation.
In 1981 Skinner et al (1) proposed the term KID syndrome for a previously disparate group of congenital disorders principally made up of keratitis (K), ichthyosis (I), and deafness (D). The coexistence of congenital deafness associated with ichthyosis had been previously recognized (2,3), yet similarities among affected patients were overlooked because of both the paucity of cases and their seeming diversity. The patient reported by Skinner is similar to one whom we have been following at the Clinique Universitaire de Dermatologie in Geneva since 1978. After having reviewed the literature, we believe that KID syndrome is a useful, unifying clinical term.
Several events of hypernatremic dehydration occurred in five infants suffering from severe congenital lamellar ichthyosis. Simultaneously, four of them developed hypothermia. Both phenomena were probably caused by excessive water loss through the affected skin. In lamellar ichthyosis the skin loses its function as an effective barrier and therefore its role in water and temperature homeostasis is defective.
The so-called KID (keratitis, ichthyosis, deafness) syndrome is a congenital disorder of ectoderm that affects not only the epidermis, but also other ectodermal tissues such as the corneal epithelium and the inner ear. Sixty-one patients who fulfill the criteria for this syndrome were identified in a review of the literature through December 1993. All had cutaneous and auditory abnormalities, and 95% also had ophthalmologic defects. The most frequent clinical features were neurosensory deafness 90%, erythrokeratoderma 89%, vascularizing keratitis 79%, alopecia 79%, and reticulated hyperkeratosis of the palms and soles 41%. All of these findings constitute the major criteria for the diagnosis. The KID acronym does not accurately define this entity since the disorder is not an ichthyosis, because scaling is not the main cutaneous feature and not all patients have keratitis early in the course. We suggest that this syndrome should be included under the general heading of congenital ectodermal defects as a keratodermatous ectodermal dysplasia (KED).
Juvenile sulfatidosis (Austin type) or multiple sulfatase deficiency is an extremely rare autosomal recessive disorder affecting the activity of many sulfatases: arylsulfatase A, several mucopolysaccharide sulfatases, and steroid sulfatase. Certain aspects of the clinical phenotype can be attributed mainly to a deficiency of one specific sulfatase. Most patients develop metachromatic leukodystrophy caused by arylsulfatase A deficiency, dysostosis multiplex by mucopolysaccharide sulfatase deficiency, and ichthyotic skin by steroid sulfatase deficiency. We describe a 7-year-old boy with developmental delay from 7 months of age, progressive spastic quadriparesis, and coarse facial features. By 27 months of age, an ichthyotic rash had developed on the limbs, trunk, and scalp. A skin biopsy specimen revealed hyperkeratosis with a normal granular layer. The diagnosis of multiple sulfatase deficiency was demonstrated by measuring sulfatase activities in fresh leukocytes: there were large deficiencies of arylsulfatase A and B plus reduced arylsulfatase C. The ichthyosis associated with multiple sulfatase deficiency has an autosomal recessive inheritance, is caused by steroid sulfatase deficiency, and the scaling is sometimes milder than in X-linked recessive ichthyosis. This could reflect the residual activity of steroid sulfatase in some cases.
Thyroid diseases may be associated with a wide variety of dermatologic disorders. We report a 15-year-old girl with acquired ichthyosis and hypertrichosis associated with hypothyroidism resulting from autoimmune thyroiditis. Her skin lesions progressively resolved after 8 months of replacement therapy with L-thyroxine. This result supports the hypothesis that hypothyroidism in our patient can be directly related to the pathogenesis of acquired ichthyosis and hypertrichosis.
Holocarboxylase synthetase deficiency is a rare autosomal recessive disorder of biotin metabolism. Clinical manifestations usually present within the first few days of life and include severe acidosis, feeding difficulties, breathing abnormalities, vomiting, seizures, progressive loss of consciousness, coma, and death. Skin findings, when present, usually develop within the first weeks of life and are described as an erythroderma-like dermatitis involving the eyebrows, eyelashes, and scalp. We were asked to consult on a newborn with a collodion membrane and severe metabolic acidosis who was eventually diagnosed with holocarboxylase synthetase deficiency and ichthyosis. The diagnosis of holocarboxylase synthetase deficiency might be considered in a newborn with collodion membrane, ichthyosis, and acidosis.
Harlequin ichthyosis, a congenital skin condition, poses challenges to nursing care, which include preventing infection, feeding, and enhancing attachment. Although breastfeeding is recognized as the best form of nutrition for infants, it may not be considered as part of a treatment plan for infants with complex needs. This article explores the experiences of one mother and her newborn with harlequin ichthyosis, and how they taught us to remember that there are unlimited possibilities for care.
Long-term survivors of harlequin ichthyosis (HI) have raised a controversy over the differences between HI and lamellar ichthyosis (LI). Abnormal lamellar granules and the failure of conversion from profilaggrin to filaggrin have been reported in HI. On the other hand, malformation of the cornified cell envelope as a result of mutation of keratinocyte transglutaminase has been found in LI. In the present study, we analyzed the distribution of keratins, filaggrin/profilaggrin and cornified cell envelope proteins in the epidermis in HI. We studied a newborn Japanese male with typical clinical features of HI. Electron microscopic observation of a skin biopsy specimen taken from the trunk revealed the presence of lipid inclusions within the cornified cells, the absence of lamellar granules in the granular layer keratinocytes, and a lack of extracellular lamellar structures between the first cornified cell and the granular cell. Immunohistochemical labeling showed a normal distribution of keratins (keratins 1, 5, 10, and 14), filaggrin/profilaggrin and cornified cell envelope proteins (involucrin, small proline-rich proteins, and loricrin) in the epidermis of lesional skin. The present observations of the patient's skin verified that keratins and cornified cell envelope proteins are normally expressed in HI, thus demonstrating a different pathogenesis between HI and LI.
Lamellar ichthyosis (LI) is an autosomal recessive disorder of cornification. Mutations in the transglutaminase 1 gene (TGM1) have been identified in several families with this disorder. We analyzed two unrelated families with offspring affected with LI. Family 1 included affected monozygotic twins, in which a homozygous G-to-T transversion was identified in exon 6 at amino acid residue R315L. This mutation was also identified in the unaffected mother. In family 2, which consisted of one affected infant, a T-to-G transversion in exon 8 resulted in a change of phenylalanine to valine, F400V, and a C-to-T transition in exon 4 resulted in a change of proline to leucine, P248L. In this family, the mutation F400V was found in the unaffected father, and the mutation P248L was identified in the unaffected mother. These findings extend the growing body of literature documenting mutations in the TGM1 gene as the molecular basis of certain cases of lamellar ichthyosis.
Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.
Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance seems likely.
Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. We identified 5 alleles in two Egyptian families as having intron-5/exon-6 splice acceptor mutation recognized by the MspI restriction endonuclease. This promoted to a frequency of 9.6% for this mutation (5 splice-mutation alleles/52 alleles tested). We extended our previous dataset to update the detection of R142H mutation in 4 CIE Egyptian families and one LI phenotype (frequency of 28.8%; 15/52), whereas we still had no R141H among our Egyptian population. There was no correlation between phenotype and genotype in our study. Surprisingly, the mutant alleles detected in intron-5 acceptor splice-site were associated with the other extreme of CIE phenotypes rather than the severe LI form. We clearly demonstrated that the ARCI Egyptian families in Upper Egypt was ethnically pure and had a tendency not to be a hybrid with other populations in Lower Egypt, Delta zone and Cairo city.
Steroid sulfatase and aryl sulfatase C activities were assayed simultaneously in peripheral blood leucocytes of 4 patients with X-linked ichthyosis (XLI) and 4 patients with autosomal-dominant ichthyosis; 11 healthy subjects served as controls. The deficiency of steroid sulfatase as well as of aryl sulfatase C found in leucocytes of patients with XLI was confirmed by the histochemical demonstration of aryl sulfatase C deficiency in skin sections. Although results are obtained earlier with the histochemical method than with the biochemical assay in leucocytes, several disadvantages brought us to the conclusion that the biochemical assay of microsomal sulfatase activity in leucocytes offers a fast and safe method for the identification of patients with XLI.
We report the case of a 15-year-old girl with a uneventful family history. Her skin condition was clinically, histologically and ultrastructurally compatible with the diagnosis of ichthyosis congenita. She suffered from neurosensory deafness and oligophrenia. Further findings included dental aplasia, brachydactyly, clinodactyly and accessory cervical ribs. At the age of 14, a thyroid carcinoma was diagnosed. Therapy with a retinoid derivative (Ro 10-9359) resulted in a marked improvement of the ichthyosis. We assume a genetic syndrome with autosomal-recessive inheritance.
Anaplastic large cell lymphoma (ALCL) is a high-grade non-Hodgkin's lymphoma recognized by the expression of the CD30 marker and by its morphology. We report an unusual case of ALCL in a 42-year-old woman. For ten years the patient only had pruritic erythematous skin lesions, then a plaque with nodules and ulcers on the right thigh and leg developed, followed by ichthyosis acquisita. The development of ALCL in women and the association of ichthyosis acquisita with this type of lymphoma are uncommon.
Neurological studies were performed in a young boy with keratitis, ichthyosis and deafness syndrome. Skin biopsy showed features of ichthyosis. Clinically and electrophysiologically, he had normal motor and sensory systems, but there was an acoustic nerve lesion and absence of tendon reflexes. Audiometry and brainstem auditory evoked potentials showed bilateral neurosensory deafness. Poor vision may not be due to an optic nerve lesion as evidenced on visual evoked potential findings, but is probably due to pronounced vascularizing keratitis of the cornea. Computer tomography scan showed mild hypoplasia of the inferior vermis and left side of the cerebellum.