Familial severe twenty-nail dystrophy

Familial severe twenty-nail dystrophy Angelito M. Arias, M . D . , Cheuk W. Yung, M.D., Solomon Rendler, M . D . , Keyoumars Soltani, M . D . , and Allan L. Lorincz, M . D . Chicago, IL Severe nail dystrophy is a recently described acquired nail disorder. The nails are variably involved and may show thinning, thickening, pitting, ridging, koilonychia, opalescence, and loss of luster. Not uncommonly, some nails are completely spared. Although most of the cases reported were among children, and nail changes showed gradual resolution, in a few cases the disorder is seen in adulthood. We recently investigated a pedigree extending through five generations in which twenty-one of the thirty-seven members were variably afflicted with the dystrophic nail changes. To our knowledge, the familial pattern, inherited as an autosomal dominant trait, has never been previously reported. We propose the term "familial severe twenty-nail dystrophy" for the disorder in this family. (J AM ACAD DERMATOL7:349-352, 1982.)

In Samman's third edition of The Nails in Disease, 1 he described a severe form of nail disorder that is usually seen in childhood and that he termed "severe nail d y s t r o p h y . " The nails are affected in a variety of ways, and all types of change may occur at the same time, one nail showing one form while others show another. Often, some of the nails are completely spared. The affected nails may show thinning or thickening, ridging, koilonychia, opalescence, and loss of luster. There is gradual improvement with age, and a few cases showed response to corticosteroid injections. 1,2 Our review of the literature on nail disorders disclosed no report of an inherited form of this recently described onychodystrophy involving all twenty nails with sparing of other ectodermally derived appendages. From the Department of Medicine, Section of Dermatology, The University of Chicago Hospitals and Clinics, Pritzker School of Medicine. Accepted for publication Jan, 13, 1982. Reprint requests to: Dr. Angelito M. Arias, University of Chicago Hospitals and Clinics, 950 E. 59th St., P.O. Box 409, Chicago, IL 60637. 0190-9622/82/090349+04500.40/0 © 1982 Am Acad Dermatol

Fig. 1. Thin, opalescent fingernails with longitudinal splitting and koilonychia. CASE REPORT The propositus is a 34-year-old white woman who came for the evaluation and treatment of an acute contact dermatitis involving the back. It was noted that all her nails were thin, rough, and opalescent and had numerous ridges running the length of the nail plate. In addition, longitudinal splitting and pterygia affected three of her toenails. The nails remained adherent to the nail bed, with mild distal onycholysis and subungual hyperkeratosis (Figs. i and 2). These nails were essen349

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350 A r i a s et al

Fig. 3. Malocclusion of teeth.

Fig. 2. Dull, roughened toenails with longitudinal striations, pterygium, and distal onycholysis.

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Fig. 4. Longitudinal nail biopsy showing focal atrophy of the nail plate. (Hematoxylineosin stain; x 150.)

tially asymptomatic but at times caused difficulty in picking up small things and created deformities that tended to snag on clothing fabrics. The proximal nail folds, hair, and mucous surfaces were all normal. Ophthalmologic examination also was normal. Dental evaluation, including radiologic examination of the upper and lower jaws, revealed Class I malocclusion (Fig. 3). Sweating was normal. Hemogram, sequential multiple analyzer test panel, and serum iron levels and iron-binding capacity were all within normal limits. Thyroid function tests were likewise normal. KOH preparations and cultures for pathogenic fungi and bacteria were negative. A longitudinal nail biopsy was taken. Hematoxylin-eosin-stained sections showed atrophy and irregular thinning of the nail plate. The nail matrix showed loci of hypergranulosis. The dermis was free of inflammatory infiltrate (Figs. 4 and 5). The nail changes, according to the patient, were noted at birth, as was the case in similarly affected family members extending over five generations. We were able to examine four afflicted individuals, and,

using the information obtained from questionnaires sent to siblings and others in the kinship, we established a detailed pedigree of the disorder (Fig. 6). Twenty-one of the thirty-seven family members extending through five generations manifested the dystrophic nail changes. One gave a history of having been born without nails, the dystrophic nails appearing at 3 years of age. Another subject had sparing of two of her fingernails. In addition, all of those examined had Class I malocclusion of teeth. All of the subjects with the nail dystrophy had been treated at one time or another with topical antifungals, antibacterials, and corticosteroids, as well as vitamin supplements without benefit. COMMENT Severe nail dystrophy is an acquired nail disorder of unknown etiology. The cases reported have been among children and have usually been followed by gradual, spontaneous resolution. A few cases are seen in adults. J,2 This recently described

Volume 7 Number 3 September, 1982

Twenty-nail dystrophy 351

Fig. 5. Histology showing the focal presence of granular layer at the nail matrix.

(Hematoxylin-eosin stain; x 400.)

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Fig. 6. Pedigree of family with familial severe twenty-nail dystrophy. onychodystrophy is clinically different from the entity "twenty-nail dystrophy of childhood," in which the primary defect consists of multiple pits on the nail plate, which by confluence produce the excessive ridging, a-5 The familial type of twenty-nail dystrophy we report shows several unique features. The dystrophic nail changes were present at birth and tended to be permanent. Enough pedigree infor-

marion was obtained to establish the mode of inheritance as autosomal dominant. The presence of occasional nail sparing, as seen in one of the subjects examined, may represent either delayed expression, if changes subsequently appear, or possibly incomplete penetrance. The frequent presence of dental malocclusion in the pedigree may be either coincidental or possibly linked with the nail changes. Although our review of the lit-

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erature revealed a few reports o f apparently familial, occasionally congenital dystrophic nail abnormalities s o m e w h a t similar to those in our patients, coexisting disorders of other ectoderm a l l y derived structures such as hair and skin were the rule. It was also apparent f r o m both the clinical descriptions and the photomicrographs that such cases belong to what are now k n o w n as the ectodermal dysplasia syndromes. 6-8 W e propose a more specific term, "familial sev e r e twenty-nail d y s t r o p h y , " for the clearly familial disorder in the pedigree w e have studied. We thank Reza Mostofi, M.S., D.M.D., for the dental evaluations of our patients.

REFERENCES

1. Samman PD: The nails in disease, ed. 3. Chicago, 1978, Year Book Medical Publishers, Inc., pp. 183-184. 2. Samman PD: Trachonychia (rough nails). Br J Dermatol 101:701-705, 1979. 3. Hazelrigg DE, Duncan WC, Jarratt M: Twenty-nail dystrophy of childhood. Arch Dermatol 113:73-75, 1977. 4. Wilkinson JD, Dawber RPR, Bowers RP, Fleming K: Twenty-nail dystrophy of childhood. Br J Dermatol 100:217-221, 1979. 5. Samman PD: The nails in disease, ed. 3. Chicago, 1978, Year Book Medical Publishers, Inc., pp. 180-182. 6. Clouston HR: A hereditary ectodermal dystrophy. Can Meal Assoc J 21:18-31, 1929. 7. Jacobsen AW: Hereditary dystrophy of hair and nails. JAMA 90:686-689, 1928. 8. Tobias N: Hereditary familial dystrophy of the nails, JAMA 84:1568-1569, 1925.