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PubMedDate not supplied

Dyskeratosis congenita preceded by severe aplastic anemia: report of one case.

Dyskeratosis congenita is a rare hereditary disease which usually manifests with skin hyperpigmentation, nail dystrophy, and leukoplakia of the mucous membrane (triad). This report describes a six-year-old boy with severe aplastic anemia who was later diagnosed to have dyskeratosis congenita. His unusual presentation was pancytopenia followed by leukoplakia of the tongue, hyperpigmentation of the skin and dystrophy of the nails. Treatment with horse anti-human lymphocyte immunoglobulin (ALG) for his aplastic anemia was not effective.

Anemia, Aplastic↗

PubMed1989

[Diagnosis and surgical management of varicosities].

The diagnosis of varicose veins is based on historical details pertaining to risk factors such as familial preponderance, advanced age, overweight, multiple births, professional activities carried out mainly in the standing or sitting position, use of oral contraceptives, diuretics or drugs which lower venous tone. Swelling of the legs on prolonged recumbancy, during pregnancy, fractures or cast treatment may be associated with thrombosis (Table 1). In addition to inspection and palpation in the standing and lying positions, the status of the pulses and the joints are of importance. The diagnostic measures must clarify the stage of the chronic venous insufficiency and provide adequate information on the various forms of venous functional disturbances (Table 2). Classification of varicose veins is carried out according to etiology--primary or secondary--or according to anatomical and functional derangement: with varicosities of the great saphenous vein and the lesser saphenous vein, in addition to valve incompetence at the proximal confluence of the saphenous-femoral junction, there may be segmental or global valve incompetence frequently in combination with a perforating vein incompetence. Varicosities of the great saphenous vein are classified with respect to whether the venous valves involved are those only in the region of the proximal confluence or from the inguinal region to above or below the knee or to the ankle, respectively, in four degrees of severity (Figure 1). For varicosities of the lesser saphenous vein, three degrees of severity are differentiated, the confluence incompetence, incompetence of the venous valves from the knee to the middle of the lower leg or from the knee to the ankle.4+ as the postthrombotic syndrome. Chronic venous insufficiency is characterized by venous hypertension and subdivided into three degrees of severity: grade I in the presence of corona phlebectatica paraplantaris and stasis edema; grade II in the presence of hyperpigmentation, melanodermitis, atrophy blanche, stasis induration and hypodermitis; grade III in the presence of hyperpigmentation, melanodermitis, atrophy blanche, stasis induration and hypodermitis; grade III in the presence of healed or florid ulceration. The two most important diagnostic measures are Doppler ultrasonography and ascending pressure phlebography which complement each other (Table 3)...

Dissection↗

PubMed1987

[Congenital diffuse melanosis].

Two cases of diffuse congenital melanosis are presented. The hyperpigmentation appeared shortly after birth and invades progressively the trunk and the limbs. It is diffuse and most intensive on the abdomen and the back, and reticulated on the neck, the genitals and in the groins. The nails are thin and their surface is slightly irregular. Histologic examination reveals the presence of melanin in the deep and superficial layers of the epidermis. On electron microscopy the melanosomes are not grouped within the keratinocytes, but are dispersed throughout the cytoplasm of the epidermal cells. The disease can be considered as an autonomous entity. The mechanism of the hyperpigmentation is not known.

Child↗

PubMed1986

Porphyria turcica: hexachlorobenzene-induced porphyria.

It has been estimated that during 1955-1959 in southeastern Turkey, approximately 4000 people developed porphyria due to ingestion of hexachlorobenzene (HCB), a fungicide added to wheat seedlings. Patients subsequently developed bullae on sun-exposed areas, hyperpigmentation, hirsutism, weakness and porphyrinuria. Children born to mothers who had ingested the grain were exposed to HCB in maternal milk and transplacentally, resulting in the death of children under the age of two. In this follow-up study, 204 patients with a past history of HCB-induced porphyria were re-evaluated. There were 132 males and 72 females, with an average age of 32.1 years, an average age of onset of 7.1 years and a duration of 2.4 years. The clinical features of the 204 patients were: scarring of the face and hands in 86.7%, hyperpigmentation in 71.1%, hirsutism in 47.1%, pinched facies in 41.2%, fragile skin in 37.7%, painless arthritis in 66.6%, small hands in 64.2%, an enlarged liver in 4.4% and an enlarged thyroid in 37.3%; most patients also showed neurological symptoms. Urine and stool porphyrin levels were determined in all patients. Seventeen showed elevated levels of one of the porphyrins and eight were considered still porphyric after 25-30 years. A total of 56 specimens of human milk obtained from porphyric mothers were analysed for HCB. The average value was 0.51 ppm compared with 0.07 in controls. After HCB ingestion, abnormal porphyrin metabolism, dermatological, orthopaedic and neurological findings, and HCB residues in the milk of porphyric patients have been shown to persist at least for 25-30 years.

Adult↗

PubMed1986

Paraneoplastic acrokeratosis: Bazex syndrome.

Paraneoplastic acrokeratosis, or Bazex syndrome, is a rare, distinct dermatosis characterized by psoriasiform acral hyperkeratosis. In most cases, it is a specific cutaneous sign of an occult squamous cell carcinoma of the upper aerodigestive tract that has metastasized to cervical lymph nodes. We report the fifth American case of paraneoplastic acrokeratosis. The patient's skin disease was more remarkable for its hyperpigmentation than its hyperkeratosis. Nearly all of the hyperpigmentation resolved, but the nail dystrophy persisted seven months after the tumor had been treated using surgery and radiation.

Carcinoma, Squamous Cell↗

PubMed1986

Congenital melanocytosis with myelomeningocele and hydrocephalus.

We report an infant who had diffuse blue hyperpigmentation at birth, which rapidly progressed to gray, over the back, buttocks, and posterior aspect of the legs, and an associated congenital anomaly. The entire thickness of the dermis contained numerous very prominent melanocytic cells which, especially in the superficial dermis, were markedly dendritic, rather than merely fusiform. An epidermal melanocyte proliferation was also present. Histologically, the lesion thus differed markedly from a mongolian spot. We believe that diffuse hyperpigmentation in the neonate should call attention to the possibility of an associated neuroectodermal malformation.

Humans↗

PubMed1985

Ocular and oculodermal melanocytosis.

Thirty-three cases of ocular (27) or oculodermal (6) melanocytosis were reviewed to determine the ocular structures involved by the melanocytic hyperpigmentation. The hyperpigmentation was clinically documented to involve all quadrants of the eye in the majority of the subjects; however, nine persons had sectorial involvement. The choroid and episclera were involved diffusely or sectorially in all the subjects, and the anterior chamber angle and iris were involved in most cases. The conjunctiva, lens and optic disc were less frequently involved. Ten persons had a uveal malignant melanoma in the hyperpigmented eye, and in three of the cases the melanoma had arisen in the hyperpigmented sector. Melanocytic involvement of the trabecular meshwork was not clinically correlated with elevated intraocular pressure.

Eye↗

PubMed1983

Nude mouse model of the melanosis syndrome.

The occurrence of diffuse hyperpigmentation secondary to a xenografted human malignant melanoma was observed in nude mice. The patient from whom this cell line was established developed cutaneous hyperpigmentation after his disease became disseminated. Light and electron microscopy studies were performed on skin and organ biopsy specimens from the hyperpigmented mice. These studies indicated that this melanoma-associated melanosis was secondary to the release of pigment granules from the xenografted tumors and to the uptake of these granules by macrophages throughout the body, including those located in the dermis.

Adult↗

PubMed1983

Prepubertal gynecomastia following topical inunction of estrogen containing ointment.

A six and a half-year-old boy was investigated for prepubertal gynecomastia and hyperpigmentation of the skin. The biological, clinical and radiological work-up did not reveal any endocrinological or tumoral cause. It was incidentally noticed that the patient's sister presented with similar clinical signs which could be related to an estrogen containing ointment. Long-term follow-up of the boy showed complete but delayed regression of the gynecomastia and persistence of hyperpigmentation. His sister developed later on a normal puberty.

Breast↗

PubMed1980

Pathophysiology of neurofibromatosis. IV. Dermatologic insights into heterogeneity and pathogenesis.

A systematic, uniform evaluation of 102 patients with, or at risk for, neurofibromatosis has shown that café au lait spots (CLS), even in large numbers, may not be sufficient to diagnose this disorder, and that several other dermatologic features may provide clues to its pathogenesis. These features include pruritus associated with high concentrations of cutaneous neurofibromas, hyperpigmentation overlying plexiform neurofibromas, two levels of hyperpigmentation in some CLS, hypopigmentation in surgical scars through CLS, and areolar neurofibromas in postpubertal females. Iris Lisch nodules (hamartomas) are present in 97% of postpubertal patients.

Adolescent↗

PubMed1981

Cutaneous manifestation of neurofibromatosis: cellular interaction, pigmentation, and mast cells.

The patchy, mosaic nature of the hyperpigmentation defect in neurofibromatosis (NF) is shown to be compatible with a cell-cell interaction model involving at least 2, and perhaps 3 cell types. Two approaches to analysis of the cellular interaction model are outlined in detail: 1) Demonstration of the more or less random number, size, and distribution of café-au-lait spots (CLS); 2) Documentation of topographic features of hyperpigmentation and neurofibroma skin lesions with special significance, including: a) Localized, intense pruritus coincident with developing or numerous neurofibromas, responding to treatment with antihistamines or oral disodium cromoglycate (the mast cell is suggested as a mediator of the pruritus and perhaps of neurofibroma development); b) The high frequency of areolar neurofibromas in postpubertal NF females, suggesting a localized estrogenic effect on neurofibroma development; c) The recognition that the usual NF freckling (eg axillary) is essentially restricted to intertriginous zones and that they therefore probably have a different mechanism of origin than do CLS.

Cell Communication↗

PubMed1982

Hidrotic ectodermal dysplasia. Report of a case with reticulated acropigmentation.

A 22-year-old black man noted punctate macular hyperpigmentation of the distal dorsal extremities around the age of 5 years. The hyperpigmentation progressed proximally and became confluent, forming a reticulated pattern. Dermatopathology revealed increased basal melanization. Keratosis palmaris et plantaris began at the age of 19 and steadily became more severe. Body and facial hair was scant, and scalp hair required cutting once every 2 years. Teeth developed normally but were carious. Fingernails were normal, but all toenails demonstrated thickening and transverse imbrications. Sperm counts were consistently below 25 million/ml; no family members were similarly affected.

Adult↗

PubMed1981

[Incidence and clinical manifestation of ACTH-producing pituitary adenoma after bilateral adrenalectomy for Cushing's syndrome (Nelson syndrome)].

29 out of 39 patients bilaterally adrenalectomized for pituitary-dependent Cushing's syndrome between 1958 and 1979 have been followed up at regular intervals. ACTH-producing pituitary adenomas were detected and removed in 9 of them up to 1981. In 4 additional patients an enlarged sella turcica was already found at the time they had Cushing's syndrome, and therefore they were first treated by pituitary surgery or radiotherapy. In the adrenalectomized patients hyperpigmentation was the major clinical symptoms of the adenoma. Only in three instances did extrasellar growth of the adenoma cause ophthalmoplegia or narrowing of the visual fields. The existence of intrasellar ACTH-producing microadenomas in 5 additional patients seems highly probable in view of hyperpigmentation, excessively elevated plasma ACTH concentrations and radiological evidence of sella deformations. These observations indicate that in patients adrenalectomized for pituitary-dependent Cushing's syndrome ACTH-producing adenomas are more common than previously assumed. Moreover, according to recent reports, ACTH-producing microadenomas are frequently found in pituitary-dependent Cushing's syndrome and are assumed by many clinical endocrinologists to be the primary cause of this disease. Therefore, bilateral adrenalectomy is no longer the undisputed therapy of first choice and it is necessary in each individual case to consider carefully whether an attempt to remove selectively an ACTH-producing pituitary adenoma by microsurgery might not be preferable.

ACTH Syndrome, Ectopic↗

PubMed1980

Unusual pigmentary changes associated with 5-fluorouracil therapy.

A fifty-six year old black man with stage D carcinoma of the prostate was treated weekly with 5-fluorouracil 750 mg/m2 for twenty-four consecutive doses. The total amount received was 27 gm. A good partial remission was attained. Little hematologic and no gastrointestinal or central nervous system toxicity was experienced. The patient did experience nasal mucosal friability and diffuse hyperpigmentation of the face and hands. Markedly increased pigmementation of skin immediately overlying veins used for multiple 5-fluorouracil infusions was noted. Because of its unusual appearance, the name serpentine supravenous fluorouracil hyperpigmentation is suggested for this entity.

Fluorouracil↗

PubMed1995

Laser treatment of erythematous/hypertrophic and pigmented scars in 26 patients.

Fifteen patients with erythematous/hypertrophic scars and 11 patients with postinflammatory hyperpigmentation were treated with a flashlamp pumped pulsed-dye laser at 585 nm or a flashlamp pulsed-dye laser at 510 nm. An average of 1.8 treatments resulted in an average improvement of 77 percent. Forty-seven percent of the patients had 100 percent improvement after one to three treatments. Eleven patients with postinflammatory hyperpigmentation were treated with the flashlamp pumped pulsed-dye laser at 510 nm with a pulse width of 300 ns. There was an average of 80 percent improvement with 1.45 treatments. Forty-five percent of the patients had 100 percent improvement after one or two treatments. The pathophysiology of postoperative scarring is reviewed. Theoretical reasons for the efficacy of laser treatment are detailed.

Cicatrix↗

PubMed1994

[Two siblings with congenital adrenocortical unresponsiveness to ACTH showing peripheral neuropathy--morphometric evaluation of the sural nerve].

A 13-year-old boy, with the diagnosis of congenital adrenocortical unresponsiveness to ACTH (ACTH insensitivity) at age 7, developed a steppage gait, when under glucocorticoid replacement therapy at age 13. The parents were healthy and not consanguinous. On general physical examination, a mild diffuse skin hyperpigmentation was noted. Neurological examinations revealed that all the muscle stretch reflexes of both limbs were absent without pathologic reflexes. Pes cavus was found bilaterally. A slight decrease of tactile sensation was noted distal to the ankle joints. Pain sensation was slightly decreased in the toes. On laboratory examination, the conduction velocities of the left ulnar and median motor nerves were 51 and 45 m/sec, respectively, which are normal. No M-wave responses were obtained by electrical stimulation of the tibial and peroneal nerves. The coefficient of the variation of the R-R interval from ECG recordings was normal. Orthostatic hypotension was not observed. Achalasia was negative on the barium swallow esophagram. Therefore, it was concluded that he had motor and sensory polyneuropathy, and a right sural nerve biopsy was performed. A 12-year-old girl, a sister of the boy described above, with the diagnosis of ACTH insensitivity at age 5, noted a pain on the medial aspect of the left sole after skating. On general physical examination, a mild diffuse skin hyperpigmentation was discovered. On neurological examination, a spontaneous pain with dysesthesia was noted on the plantar aspect of the 1st, 2nd and 3rd left toes and on the anterior and medial aspect of the sole. Otherwise she was normal. A diagnosis of the left tarsal tunnel syndrome was made.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1994

[Leg ulcers with hyperpigmented maculae and white atrophy as manifestation of Klinefelter syndrome].

Two patients, men of 38 and 32 years old, had Klinefelter's syndrome in combination with recurrent lower leg ulcers and hyperpigmentations. For the ulcers no venous insufficiency or other underlying cause could be found. Klinefelter's syndrome is characterised by the existence of at least one extra X-chromosome in phenotypical men. Clinical findings are eunochoid body proportions, scanty facial and body hair, gynaecomastia and small testicles. Plasma follicle-stimulating hormone is usually high and testosterone is reduced in about 50% of the patients. Leg ulcers, especially in combination with hyperpigmentation or atrophie blanche of the surrounding skin, can be a symptom of Klinefelter's syndrome and are not necessarily to be attributed to venous insufficiency.

Adult↗

PubMedDate not supplied

Eosinophilic fasciitis in an adolescent girl with lymphadenopathy and vitiligo-like and linear scleroderma-like changes. A case report.

The patient, a 14-year-old girl, suffered from arthralgias which occurred after tonsillitis. Two months later she developed edema of the left lower extremity, finger flexion contractures and induration of the skin of the left leg, associated with hypergammaglobulinemia, peripheral hypereosinophilia, elevated ESR and a positivity of ANA and anti ds-DNA antibodies. A biopsy of the inguinal lymph node, performed because of left inguinal and retroperitoneal lymphadenopathy, showed only slight inflammatory activation and a granulomatous reaction after lymphography. A few days after the lymphography linear erythema evolving later into hyperpigmentation and corresponding to the superficial lymphatics developed on the left side of the body, very probably as a reaction to the patent-blue dye. Deep en-block skin biopsy confirmed the diagnosis of eosinophilic fasciitis (EF). After two years of therapy with prednisone and d-penicillamine the patient felt well, and her flexion contractures resolved, ANA were positive, while anti ds-DNA were negative. Linear hyperpigmentation persisted, and linear scleroderma-like changes developed on the left lower limb. A vitiligo-like lesion on the right foot which occurred after one year of therapy persisted. The possible risk of developing systemic connective tissue disease necessitates the long term follow up of this patient.

Adolescent↗