Patología de las uñas en la infancia. Cómo interpretar los cambios en la superficie ungueal / Nail alterations in children. How to interpret the changes in the ungueal surface

La patología ungueal en la infancia es muy amplia y su conocimiento es imprescindible para el diagnóstico de variados procesos que muestran en las uñas su seña de identidad propia. En muchos casos la afectación ungueal es la pionera de la enfermedad, permitiendo un diagnóstico precoz. A nivel de la atención pediátrica extrahospitalaria, el conocimiento de la semiología ungueal permite orientaciones diagnósticas en las que no es preciso el uso de complejas y costosas técnicas complementarias. Revisaremos los cambios en la superficie de la lámina ungueal (cambios en la lisura, curvatura, grosor...) y su implicación clínica, mostrando especial interés en recalcar los procesos dermatológicos o sistémicos que acompañan a cada síntoma ungueal

Ungueal pathology in children is very extensive and its knowledge is essential to diagnose varied processes that leave an identifying mark on the nails. In many cases, the affected nail is the pioneer of the disease, allowing for an early diagnosis. In regards to outpatient pediatric care, knowledge of nail semiology allows for diagnostic orientations in which the use of complex and costly complementary techniques is not necessary. We review the changes on the nail plate surface (changes in smoothness, curvature, thickness, etc.) and its clinical implication, showing special interest in emphasizing the dermatological or systemic processes that accompany each ungueal symptom

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

BACKGROUND: Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an inherited X-linked dominant variant of chondrodysplasia punctata which primarily affects the skin, bones and eyes. CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9)-cholesterol and 8-dehydrocholesterol. OBJECTIVES: To expand the understanding of CDPX2, clinically, biochemically and genetically. METHODS: We present one of the largest series reported to date, including 13 female patients belonging to nine Spanish families. Patients were studied biochemically using gas chromatography-mass spectrometry, genetically using polymerase chain reaction and in their methylation status using the HUMARA assay. RESULTS: In our cases, there was a clear relationship between abnormal sterol profile and the EBP gene mutation. We describe three novel mutations in the EBP gene. EBP mutations were inherited in three out of nine families and were sporadic in the remaining cases. CONCLUSIONS: No clear genotype-phenotype correlation was found. Patients' biochemical profiles did not reveal a relationship between sterol profiles and severity of disease. A skewed X-chromosome inactivation may explain the clinical phenotype in CDPX2 in some familial cases.

Incontinentia pigmenti: XXY male with a family history.

We report on the case of a male who from the start of life displayed vesicular lesions; on the trunk these were clustered and on the limbs they adopted a linear configuration. After biopsy of one such lesion, the histopathological study was compatible with a diagnosis of incontinentia pigmenti (IP). In the following months, hyperkeratotic lesions appeared which later became pigmented. The mother and other female members of the family also showed different degrees of alteration related to the same disease. The karyotype study showed the existence of 47,XXY (Klinefelter syndrome). The exceptional nature of this case is that although it is the third case reported in the literature of a male affected by incontinentia pigmenti with a previous family history, it is the only one combining this characteristic with the presence of a 47,XXY karyotype.

Subcutaneous fat necrosis of the newborn and idiopathic hypercalcemia.

A newborn with important signs of fetal disturbance and respiratory distress and respiratory distress developed plaques on both buttocks 14 days after birth, with the clinical and histological characteristics of subcutaneous fat necrosis of the newborn. Fifteen days after the onset of the cutaneous signs, a discrete degree of hypercalcemia was detected. Its outcome was favorable due to the early establishment of a diet rich in medium-chain triglycerides and devoid of calcium and vitamin D. Sixteen cases of idiopathic hypercalcemia in newborn with subcutaneous fat necrosis have been reported of which 3 died. Serial serum calcium determinations should be made in such infants and they should be observed closely for signs and symptoms of hypercalcemia.