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Evaluation of the Spine in a Child
Published in Nirmal Raj Gopinathan, Clinical Orthopedic Examination of a Child, 2021
Ashish Dagar, Sarvdeep Singh Dhatt, Deepak Neradi, Vijay G Goni
Inspection should include all regions of the back, neck, triangles of the neck, supraclavicular fossa, axilla, arms, chest, abdomen, gluteal region, thigh, and legs. Look for stigmata of spinal dysraphism such as hair patches, puckering of the skin, dimples, or sinuses. Notice any café au lait spots and neurofibromas. Swellings should be described in terms of site, size, shape, number, margins, skin changes, pulsations, and signs of inflammation such as redness and erythema. Scars and sinuses should also be described in terms of site, size, number, edges, margins, floor, base, type of discharge, surrounding skin changes such as pigmentation and associated signs of inflammation such as redness and erythema. Comment on the central furrow. Obliteration of the central furrow can be due to wasting of the paraspinal muscles or a minimal kyphotic deformity. A prominent central furrow may be seen in paraspinal muscle spasm. The pectus carinatum (prominent sternum) and pectus excavatum (sunken or funnel chest) should be noted.
Neurology and neurosurgery
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
Linear streaky vesicles on the limbs which become verrucous and then depigmented are the first manifestation of incontinentia pigmenti in the newborn. Adenoma sebaceum, shagreen patches and hypo-pigmented macules are seen in tuberous sclerosis. Café au lait spots are characteristic of neurofibromatosis. Telangiectasia in the skin and conjuctiva are seen in ataxia telangiectasia. Vitiligo is a harmless sharply demarcated skin lesion which has hyperpigmented borders.
Neurofibromatosis Types 1 and 2
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Clinical criteria for NF1 diagnosis are based on meeting two or more of the following conditions: (i) café-au-lait spots: six or more lesions of >5–15 mm in diameter; (ii) neurofibromas: two or more of any type or one plexiform neurofibroma; (iii) freckling: axillary or inguinal regions; (iv) optic gliomas; (v) Lisch nodules (iris hamartomas): two or more; (vi) bony lesions: sphenoid dysplasia or tibial pseudarthrosis; and (vii) family history: a first-degree relative with the disease.
The outcome of childhood adrenocortical carcinoma in Egypt: A model from developing countries
Published in Pediatric Hematology and Oncology, 2020
Wael Zekri, Mahmoud Hammad, Wafaa M. Rashed, Gehad Ahmed, Maged Elshafie, Marwan H. Adly, Yasser Elborai, Badr Abdalla, Hala Taha, Naglaa Elkinaae, Amal Refaat, Alaa Younis, Ahmad S. Alfaar
Several hereditary syndromes are known to be associated with benign or malignant ACCs. Such hereditary conditions include Li-Fraumeni syndrome, multiple endocrine neoplasia type 1 (MEN-1), and Beckwith-Wiedemann syndrome.4,20 Pediatric ACC is always associated with constitutional genetic abnormalities (eg, TP53). Genetic variations in the TP53 tumor suppressor gene contribute to human cancers in various ways.21 The inheritance of a TP53 mutation causes predisposition to early-onset cancers, including breast carcinomas, ACC, and brain tumors.22 One Brazilian study reported that at least nine out of ten Brazilian pediatric ACC patients carried a germline TP53 mutation.22 None of the patients included in this study had physical findings or a positive family history of any specific syndrome, except for one woman that exhibited multiple café au lait spots all over her body, a finding often associated with neurofibromatosis type 1. Unfortunately, genetic mutational analysis and sequencing were not available at our hospital at the time of this study.
Effects of a fractional picosecond 1,064 nm laser for the treatment of dermal and mixed type melasma
Published in Journal of Cosmetic and Laser Therapy, 2018
Thep Chalermchai, Paisal Rummaneethorn
Picosecond laser has been approved by the USFDA for use in tattoo removal (19,20). A systematic review by Reiter et al of the use of picosecond lasers in tattoo removal showed that 69–100% of tattoos demonstrated over 70% clearance of pigment after one to ten laser treatments (21). Side effects reported included immediate pain, skin hyperpigmentation, blister formation and transient skin redness. Picosecond lasers have also been employed with observed clinical benefit for the treatment of other skin pigmentation lesions, including in cutaneous argyria (22), minocycline-induced skin pigmentation (23) and nevus of Ota (24). A retrospective study by Chan JC et al investigated the treatment of cutaneous pigmented lesions using a picosecond 755-nm alexandrite laser in 13 Asian subjects over one to seven sessions of treatment (25). Pigmentory lesions treated in this study included Nevus of Ota, café-au-lait lesions and solar lentigene. The study reported that favorable outcomes could be seen in the Nevus of Ota and café-au-lait spots after 3–5 treatments. 4.8% of subjects in the study were observed to develop transient hypopigmentation following treatment. A previous study to determine the efficacy and safety of picosecond alexandrite laser with a specialized lens array for the treatment of photoaged décolletage found a significant improvement in dyspigmentation and skin texture at 1 and 3 months after initiation of treatment (26).
Giant Perineal Plexiform Neurofibroma in an 8-Year-Old African Male
Published in Fetal and Pediatric Pathology, 2023
Javier Arredondo Montero, Mónica Bronte Anaut, Carlos Bardají Pascual
This 8-year-old African male, with no known relevant history, was evaluated during a cooperation campaign carried out by our surgical team in Velingara, Senegal, during December 2021. He had a large perineal tumor of years of evolution. The patient was symptom-free, although he was psychologically affected by the presence of the lesion. Physical examination revealed a soft, mobile, and non-painful lesion that encompassed the patient’s entire perineum, displaced the testes laterally and formed a ring around the base of the penis (Fig. 1). The anus was not affected. Some hyperpigmented macules compatible with café-au-lait spots were observed, although given that the patient had previous scars and excoriations it was difficult to interpret their significance.