Benign calcinosis cutis

A novel homozygous variant in exon 10 of the <i>GALNT3</i> gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India

“…Differential diagnoses of HFTC include progressive osseous heteroplasia, Cole disease, benign tumoral calcinosis, porphyria cutanea tarda, normophosphatemic FTC, fibrodysplasia ossificans progressiva, iatrogenic tumoral calcinosis and connective tissue diseaseassociated tumoral calcinosis, which all have normophosphatemia (1,8). Very rarely, cutaneous or tendinous xanthomas of homozygous familial hypercholesterolemia needs differentiation from HFTC lesions (9,10).…”

Idiopathic calcinosis cutis in an infant: The importance of a wait‐and‐see approach

“…5 Spontaneous resolution of idiopathic CC over a relatively short period of 5-6 months has been reported in children. 2,4 In sum, we report in an exceptional case of self-resolving idiopathic CC, emphasizing the importance of a wait and see approach. In addition, it is important to remember that, in the pediatric population, the risks of non-approved systemic therapy and those requiring general anesthesia can outweigh the benefit.…”

“…Surgical excision may be necessary to treat painful or large lesions and those producing movement restriction, but the size and number of the involved areas in our patient prevented us from performing surgical therapy, as it is not unusual to devlop new calcium deposition in the surgical wound and relapse 5 . Spontaneous resolution of idiopathic CC over a relatively short period of 5–6 months has been reported in children 2,4 …”

“…Idiopathic CC, also called tumoral calcinosis or benign tumoral calcinosis, is extremely rare in children. [2][3][4] It has been reported mainly in infants occurring in the first months of life or at birth. 2 It may appear on the trunk, limbs and even palms and soles.…”

Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia

“…Drugs that do not require a competent LDLR for their action such as bile acid ion-exchange resins, niacin, ezetimibe, and lomitapide are effective in FH due to mutations in ATP binding cassette subfamily G [ 4 ]. Lastly, molecular diagnosis of HoFH may help to avoid situations where xanthoma is misdiagnosed as other skin lesions and therefore mistreated in clinical practice [ 5 , 6 ].…”