Cases reported "Nail Diseases"

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1/12. Subungual exostosis of the third toe.

    Subungual exostosis is a variant of osteochondroma that appears as a pinkish nodule under the free end of the nail plate. It becomes symptomatic when large enough to disrupt the overlying nail on the digit or through mechanical irritation of the exostosis from physical activity. Appropriate workup of such a lesion is important, because many cases of subungual exostosis are initially misdiagnosed by a variety of specialists, including dermatologists. With the use of history and roentgenography, subungual exostosis can be effectively diagnosed or excluded. Appropriate treatment of subungual exostosis can be selected- surgical excision of the lesion with significant cure rates achieved. Although most cases of subungual exostosis are localized to the great toe, we describe a 32-year-old woman who developed a subungual exostosis on her right third toe. Appropriate diagnostic workup and surgical treatment of the right third-toe exostosis has resulted in complete relief of symptoms with no signs of recurrence 7 months after surgery.
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keywords = physical
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2/12. Trachyonychia: a case report and review of manifestations, associations, and treatments.

    Trachyonychia ("rough nails") is best considered a reaction or morphologic pattern with a variety of clinical presentations and etiologies. It may involve only 1 or as many as 20 nails (20-nail dystrophy). It can be a manifestation of lichen planus, psoriasis, alopecia areata, immunoglobulin a deficiency, atopic dermatitis, and ichthyosis vulgaris. Nail matrix biopsy results and physical examination findings help in establishing the cause of this condition, though often trachyonychia is an isolated finding. When trachyonychia occurs in childhood as a manifestation of lichen planus, it tends to resolve with time. We review a case of trachyonychia, its association, its diagnostic evaluation, and treatment options.
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ranking = 6.2799932819772
keywords = physical examination, physical
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3/12. Idiopathic splinter hemorrhages.

    Splinter hemorrhages are non-blanchable usually distal reddish-brown linear hemorrhages beneath the nails. Among a variety of etiologic factors reported, trauma is the most common cause. A 26-year-old Hispanic female presented with asymptomatic, extensive fingernail hemorrhages of two months duration. There was no history of physical trauma to the nails. Treatment with a topical antifungal medication for one month produced no improvement. The past medical history was noncontributory. Extensive laboratory testing revealed no underlying systemic disease. Three months after the initial presentation, 6 of 10 fingernails showed signs of resolution without treatment. We conclude that idiopathic atraumatic subungual splinter hemorrhages can occur in healthy individuals. Spontaneous resolution occurred in our patient.
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keywords = physical
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4/12. Familial juvenile hypertrophy of the breast.

    OBJECTIVE: Juvenile (virginal) hypertrophy of the breast (JHB) is a relatively rare condition leading to gigantomastia in peripubertal females. The pathology is limited usually to the breast, with otherwise normal growth and development and without any other deformities. The rapid growth of the breast (bilateral or unilateral) in adolescent girls leads to significant physical and psychological difficulties. This gigantomastia is treated surgically by breast reduction or mastectomy and its modification. Familial JHB was described only once in the literature, and its etiology is unknown. RESULTS: We report here on a familial pattern of juvenile hypertrophy of the breast accompanied by congenital anonychia. To the best of our knowledge, this is the first report of such a presentation. Our study dealt with four members of the same family, related through their fathers, enduring congenital anonychia of hands and feet with no functional limitation and who showed rapid uncontrolled breast enlargement in prepubertal age. This was severe enough to cause the curtailment of their social activity and cessation of schooling. The mothers of all four patients had normal breasts and nails, whereas their fathers had anonychia. The genetic basis for the association between the two clinical findings is yet to be determined. CONCLUSION: The four girls underwent breast reduction surgery.
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keywords = physical
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5/12. Localized longitudinal erythronychia: diagnostic significance and physical explanation.

    BACKGROUND: Longitudinal erythronychia (LE) is a term for red streaks in the nail. We describe the range of diseases manifested by localized (single or bifid) LE and explain the underlying physical changes. OBSERVATIONS: Longitudinal erythronychia can be multiple or localized. Multiple lesions typically indicate an inflammatory disease such as lichen planus. When localized, they may be a single or bifid streak arising through a benign or malignant neoplasm, scarring of the dermis or epidermis, or the first stage of an inflammatory process that may evolve into multiple LE. Excision of a localized LE may provide a diagnosis and cure. Incisional matrix biopsy of multiple LE may provide a diagnosis. Clinical manifestation of LE arises through reduced compression of the nail bed due to loss of bulk of the nail plate with a groove on the undersurface. A streak of thinned nail then allows an enhanced view of a corresponding streak of engorged nail bed. The reduction in nail thickness renders it more fragile with a tendency to split distally. CONCLUSIONS: Understanding LE can assist in diagnosis and explanation to the patient. Localized LE may represent a focal tumor or dysplastic process.
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ranking = 5
keywords = physical
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6/12. Longitudinal melanonychia of the toenails with presence of Medlar bodies on biopsy.

    A 9-year-old girl presented with a 2-year history of pigmented streaks on her second right toenail as well as on her fourth and fifth left toenails. The patient was otherwise asymptomatic with no other physical findings. Owing to parental concern, a biopsy was performed, which revealed numerous bacteria as well as Medlar bodies overlying the nail bed with no evidence of a nevomelanocytic lesion. To our knowledge, this is the first report of Medlar bodies causing pigmented streaks in the toenails.
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keywords = physical
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7/12. child syndrome in 3 generations: the importance of mild or minimal skin lesions.

    BACKGROUND: child syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects, Online Mendelian Inheritance in Man 308050) is an X-linked dominant trait with lethality for male embryos. The disorder is caused by mutations in NSDHL (Online Mendelian Inheritance in Man 300275), a gene playing an important role in the cholesterol biosynthetic pathway. Most reports deal with sporadic cases, and only 5 cases of mother-to-daughter transmission have been documented. We present here a family with mild features of child syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis. OBSERVATIONS: We studied 14 members of a family with child syndrome. The 23-year-old proposita, her mother, 2 aunts, and her grandmother presented with mild or minimal skin lesions that had been present since infancy. Analysis of the NSDHL gene showed missense mutation c.370G-->A in these 5 patients. This mutation was absent in the 9 clinically unaffected family members tested. CONCLUSIONS: In this family, we recognized child syndrome with mild or minimal features in 3 generations because we were able to verify our clinical diagnosis by means of molecular analysis. We assume that many cases that so far have been considered sporadic may in fact be familial when a meticulous physical examination of female family members is combined with molecular testing.
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ranking = 6.2799932819772
keywords = physical examination, physical
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8/12. yellow nail syndrome: a perspective.

    The yellow nail syndrome is an unusual lymphangitic disorder classically characterized by the presence of nail discoloration, lymphedema and pleural effusion. Since the recognition of the significance of these associated physical findings, four cases have been diagnosed at our institution in the last six years. This suggests that the syndrome may not be as rare as previously reported in medical literature. More often it may remain unrecognized in the absence of the classic triad of physical findings. To heighten awareness of this disorder, we describe our most recent patient diagnosed with YNS and provide a review of the current medical literature.
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keywords = physical
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9/12. Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

    Trichothiodystrophy, or sulfur-deficient brittle hair, is a clinical marker for a neuroectodermal symptom complex that usually features mental and physical retardation and may also include nail dystrophy, lamellar ichthyosis, ocular dysplasia, dental caries, and decreased fertility. cystine-deficient hair is common to all patients. The hairs from two new patients were studied, and the most distinctive microscopic hair findings were striking bright and dark bands seen with polarizing microscopy using crossed polarizers. To date, all hair samples showing this banding have had an abnormally low sulfur content. Two-dimensional electrophoresis on the two protein fractions of the abnormal hair confirmed that the abnormality is caused by decreased synthesis of high-sulfur matrix proteins. Disturbances of the transport or utilization of sulfur-containing amino acids in other neuroectodermal tissues may be proposed to account for the various disease features in these persons.
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keywords = physical
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10/12. Multiple Beau's lines in a patient with fever of unknown origin.

    We describe a case of fever of unknown origin (FUO) of 9 months' duration in which the finding of regularly spaced multiple Beau's lines (the "ladder nail" sign) pointed to the possibility of a relapsing fever of the Pel-Ebstein variety and an underlying lymphoma. Subsequent investigation confirmed the association of the Beau's lines and fever, as well as the diagnosis of Hodgkin's disease as the cause of the FUO. In this setting, Beau's lines may provide an important diagnostic clue and should be carefully looked for on physical examination.
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ranking = 6.2799932819772
keywords = physical examination, physical
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