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Biomedical subjects

M C Garzon

Publications and source records attributed to M C Garzon.

15 recordsLinked to original sources
PubMed2003

Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.

Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair resulting from periodic thinning of the shaft (MIM 158000). The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. Mutations of the helix-encoded region in two hair-specific keratins (hHb1 and hHb6) have been identified as responsible for this disorder. We investigated two unrelated families from Russia and Colombia with monilethrix and found two missense mutations in hHb6. In the Russian family, we found a G to A transition at the first base of codon 402, resulting in a lysine substitution (GAG to AAG), designated E402K. In the Colombian family, affected patients carried a missense mutation of codon 413, involving a transition from G to A causing a lysine substitution (GAG to AAG), designated E413K. These two mutations have been identified in other monilethrix families from Europe. Our findings extend the body of evidence implicating recurrent hHb6 and hHb1 mutations in monilethrix families from around the world.

Colombia↗
PubMed2000

Vascular tumors and vascular malformations: evidence for an association.

BACKGROUND: The International Society for the Study of Vascular Anomalies classification is an updated biologic classification that distinguishes vascular tumors from vascular malformations on the basis of clinical and histologic characteristics and biologic behavior. OBJECTIVE: We propose that in a minority of cases there is an association between vascular tumors and vascular malformations. METHODS: We retrospectively identified clinical cases in our medical centers and others reported in the medical literature that demonstrate an association between vascular tumors and vascular malformation clinically or histologically. RESULTS: We identified several clinical or histologic settings in which vascular tumors and vascular malformations were associated: (1) coexistence of hemangioma and vascular malformation at the same anatomic site or in close proximity; (2) pyogenic granuloma arising within a vascular malformation; (3) hemangioma associated with developmental vascular anomalies; (4) spindle-cell hemangioendothelioma and venous malformation; (5) kaposiform hemangioendothelioma and lymphatic malformation. CONCLUSION: The biologic classification of vascular birthmarks distinguishing vascular tumors from vascular malformations is clinically useful and forms the framework for our understanding of vascular anomalies. These examples suggest that in a small minority of patients there is an association between vascular tumors and vascular malformations.

Cardiovascular Abnormalities↗
PubMed1999

Ultrapotent topical corticosteroid treatment of childhood genital lichen sclerosus.

OBJECTIVE: To observe the clinical effects of short-term application of ultrapotent topical corticosteroid on symptomatic genital lesions of lichen sclerosus in pediatric patients. DESIGN: Case series of 10 prepubertal girls with genital lichen sclerosus. Ultrapotent topical corticosteroids were applied twice daily for 6 to 8 weeks and patients were reexamined at completion of treatment. Long-term follow-up over 6 months to 3 years. SETTING: Pediatric dermatology clinic (referral center). PATIENTS: Ten prepubertal girls with typical clinical features of genital and/or perianal lichen sclerosus. INTERVENTION: Topical ultrapotent corticosteroid ointment was applied sparingly to affected areas for 6 to 8 weeks. MAIN OUTCOME MEASURE: Improvement of erythema, whitening erosions, and atrophy. Subjective improvement of symptoms. RESULTS: All patients showed partial or total subsistence of signs and symptoms of lichen sclerosus. Frequency and severity of recurrences varied, but patients responded within a few days to reapplication of ultrapotent topical corticosteroid. No significant adverse effects were noted after the initial 6- to 8-week course of therapy or during the 6-month to 3-year follow-up period. CONCLUSION: A 6- to 8-week course of ultrapotent topical corticosteroid is a safe and effective treatment for genital lichen sclerosus in pediatric patients.

Administration, Topical↗
PubMed1999

Cutaneous T cell lymphoma in children.

Cutaneous T cell lymphoma (CTCL) is a term used to describe a heterogeneous group of lymphoproliferative disorders that involve the skin. Mycosis fungoides and Sézary syndrome are two forms of CTCL that arise in adults and are uncommon in children. Dermatologists frequently employ the term CTCL as a synonym for mycosis fungoides and Sézary syndrome. There has been increased recognition that the mycosis fungoides and Sézary syndrome forms of CTCL may arise in children and adolescents. Moreover, younger adults with these types of CTCL report onset of symptoms during adolescence. The literature regarding CTCL in childhood is limited. The purpose of this article is the review the literature regarding CTCL arising in children. The clinical presentation including morphologic variants, diagnosis, prognosis, and management are summarized.

Child↗
PubMed1999

Identification of mutations in the transglutaminase 1 gene in lamellar ichthyosis.

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.

Amino Acid Sequence↗
PubMed1998

Molecular epidemiology of staphylococcal scalded skin syndrome in premature infants.

BACKGROUND: Outbreaks of nosocomial staphylococcal scalded skin syndrome (SSSS) in infants have been well-described associated with the well baby nursery or delivery room. We describe two cases of SSSS in very low birth weight infants in a neonatal intensive care unit (NICU) and the success of infection control strategies used to prevent an outbreak. METHODS: Staphylococcal scalded skin syndrome was diagnosed in two infants in the NICU: Case I (a 47-day-old, formerly 530-g female); and Case II diagnosed 48 h later (a 41-day old, formerly 706-g female). Multiple infection control measures were implemented: (1) isolation and intravenous antibiotic treatment of cases; (2) placement of exposed infants into a cohort; (3) prophylactic mupirocin treatment of the anterior nares of all infants in the NICU and staff colonized with Staphylococcus aureus; and (4) personnel hand washing with hexachlorophene. Detection of exfoliative toxin A and studies to determine the genetic relatedness of S. aureus strains isolated from patients and staff were performed. RESULTS: In addition to the two SSSS cases, S. aureus was isolated from 2 of 12 (17%) exposed asymptomatic infants, 2 of 20 (10%) ancillary staff, 8 of 30 (27%) nurses and 6 of 24 (25%) physicians. Exfoliative toxin A-producing strains were isolated from both cases and one asymptomatic infant. No toxin was expressed by strains isolated from staff. Pulse field gel electrophoresis demonstrated genetically identical strains of S. aureus from the two SSSS cases and the asymptomatic infant, whereas three staff members harbored strains genetically related to the case strain. Unexpectedly two additional unique clusters of genetically related S. aureus strains were identified from the surveillance cultures. CONCLUSIONS: This report documents the rare occurrence of nosocomial SSSS attributed to transmission in the NICU among extremely low birth weight infants. Multiple infection control strategies were effective in limiting the outbreak. Molecular epidemiology investigation supported a unique S. aureus strain responsible for this event and the presence of bidirectional spread between staff and patients of non-toxin-producing strains.

Cross Infection↗
PubMed1997

Photosensitivity in the pediatric patient.

Photosensitivity in the pediatric patient is caused by a diverse group of disorders. It may indicate a serious underlying systemic disease such as lupus erythematosus or dermatomyositis, or be an early symptom of a rare group of genetic disorders that includes the porphyrias, xeroderma pigmentosum, Cockayne syndrome, Bloom syndrome, and Rothmund-Thomson syndrome. Idiopathic disorders and ultraviolet light-induced reactions to topical or systemic agents may also cause photosensitivity in children. Early recognition and prompt diagnosis may prevent complications associated with prolonged unprotected exposure to sunlight and permit recognition of families at risk for rare heritable disorders associated with photosensitivity.

Child↗
PubMedDate not supplied

Neonatal urticaria due to prostaglandin E1.

Prostaglandin E1 is commonly used in the management of cyanotic congenital heart disease. While cutaneous flushing and peripheral edema are well recognized side effects of prostaglandin E1 therapy, other cutaneous effects have not been described in the dermatologic literature. We report a neonate with transposition of the great vessels who developed urticaria during treatment with prostaglandin E1.

Alprostadil↗
PubMedDate not supplied

Tuberous xanthomas in sitosterolemia.

Sitosterolemia is an autosomal recessive lipid disorder in which plasma plant sterol levels are extremely elevated and cholesterol levels are often elevated but may be normal. Clinically sitosterolemia is characterized by xanthomas, premature vascular disease, and arthritis. Adolescent boys and girls with sitosterolemia are susceptible to fatal cardiac events. Dermatologists may have a vital role in the diagnosis of this rare but serious condition because early detection and treatment are important in preventing the associated atherosclerotic heart disease. We present a 7-year-old girl with sitosterolemia and tuberous xanthomas.

Anticholesteremic Agents↗