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BACKGROUND: Functional impairment is the main consideration when it comes to choosing therapy for infantile hemangiomas (IH). However, since most hemangiomas are treated for cosmetic reasons, it is important to know the cosmetic outcome assessed by the parents. OBJECTIVE: To evaluate the aesthetic outcomes of IH, considering the characteristics of the lesions and the treatments used. PATIENTS AND METHODS: The Spanish Infantile Hemangioma Nationwide Prospective Cohort (2016-2022) recruited all consecutive patients diagnosed with IH in 12 Spanish hospitals. The children included had 2 photos of the IH lesion (at both baseline and at the end of the study). A panel of parents blindly assessed all available photos using a scale from 0 (worst cosmetic outcomes) to 10 (best cosmetic outcomes). The different scores -both before and after treatment-as well as the outcomes percent considered excellent (> 9) were described and compared. We analyzed the effect of receiving different therapies and performed causal model analyses estimating the mean treatment effect of parents' assessments. RESULTS: The median follow-up was 3.1 years. A total of 824 photos were evaluated. Baseline aesthetic impact was higher in the propranolol group vs the topical timolol and observation treatment groups (1.85 vs 3.14 vs 3.66 respectively; p < 0.001). After treatment, the aesthetic impact was similar between both treatment groups (7.59 vs 7.93 vs 7.90; p > 0.2). The causal model could only be applied to the comparison between topical timolol and observation, revealing no differences whatsoever. CONCLUSION: This is the first prospective cohort to analyze the aesthetic outcome of IH. The final aesthetic results of the 3 therapies were similar, with nearly 40% of patients achieving excellent aesthetic outcomes.
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Hair shaft disorders, involving dysplastic abnormalities in the shaft, may be either congenital or acquired. Two large categories have been defined according to the presence or not of hair fragility. A diagnosis can usually be made after taking a thorough medical history and performing a physical examination. Trichoscopy has become a useful, cost-effective tool in recent years, particularly for examining the hair of children, because it facilitates inspection without removal of hairs. Structural abnormalities in the hair shaft are sometimes clues to the diagnosis of more complex diseases in which early treatment can improve prognosis. This review describes key features that enable the diagnosis of the most common hair shaft disorders and discusses the various treatments currently available.
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Hair shaft disorders, involving dysplastic abnormalities in the shaft, may be caused by genetic mutations or acquired through environmental exposures. The second part of this review presents these disorders classified according to the degree of hair fragility. It is important to take a thorough medical history and examine the hair to detect changes in texture, density, quality, and whether fragility is observed or not. Trichoscopy is a useful, noninvasive tool that can suggest a diagnosis in most cases. Specific treatments for hair shaft disorders are not available at present. We recommend general care practices to prevent hair damage; examples are avoiding excessive brushing, chemical products, hairstyles that introduce tension, and exposure to excessive heat. Some hair shaft disorders improve with puberty. Others may respond to treatments such as topical applications of minoxidil.
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Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.