European Journal of Pediatric Dermatology

Importance of pediatric dermatologists for early diagnosis of Fabry disease.

S.M. Ibarra — 2025-02-09

Fabry disease (FD) is a lysosomal disorder caused by a deficiency of α-galactosidase A leading to systemic deposition of glycosphingolipids. Early manifestations of the disease include dermatological and soft tissue symptoms such as angiokeratomas (AK), abnormal sweating, acroparesthesias and lymphedema. Recognition of these symptoms is crucial for early diagnosis and timely treatment. In the current work we will present 2 cases of FD diagnosed in a pediatric dermatology clinic.

Congenital agminated Spitz nevus.

D. Castillo Molina — 2025-02-09

Spitz nevus is a melanocytic nevus that is more frequent in pediatric age, in some cases present at birth. Its clinical and histological characteristics are variable and can represent a challenge for the dermatologist and the pathologist. We describe the case of a two-year-old child who has had since birth on the right thumb an erythematous-violet plaque with an irregular surface and with secondary alterations of the nail plate. The lesion, according to the parents, has undergone recurrent episodes of bleeding. The histological examination speaks of a low-risk Spitz nevus. The lesion is treated with cryotherapy, which reduces its thickness and clinical evidence.

BCGitis in a child with common variable immunodeficiency complicated by autoimmune hemolytic anemia.

V. Belgaumkar — 2025-02-09

BCGitis is an infection that can occur after vaccination with Bacillus Calmette Guerin (BCG), which is commonly administered in India to all infants at birth to prevent tuberculosis. We report a case of a 6-year-old boy with common variable immunodeficiency complicated by autoimmune hemolytic anemia, under treatment with immunosuppressants, who presented with a small painful nodule with pus discharge laterally on the left arm with ipsilateral lymphadenopathy. Histopathology and nucleic acid amplification testing confirmed localized BCGitis. Complete resolution of the lesion occurred after 6 months of fixed-dose combination antituberculosis treatment. Therefore, early recognition and treatment of BCGitis in immunocompromised children can have a significant impact on disease progression and improve prognosis.

Lichen planopilaris with classic dermoscopic features associated with findings reminiscent of alopecia areata.

S.S. Patankar — 2025-02-09

Lichen planopilaris (LPP) is a rare variant of lichen planus potentially leading to cicatricial alopecia on the scalp. Alopecia areata (AA) is an autoimmune disorder that causes reversible non-cicatricial alopecia. We describe the case of a 15-year-old girl with tubercular lymphadenitis, depression, and hypothyroidism, presenting with multiple, well-defined, erythematous, and hyperpigmented alopecic patches in the frontal parietal region and on the vertex for 1 month. Dermoscopy showed classic findings of lichen planopilaris associated with features of alopecia areata, suggesting a colocalization of the two diseases, as previously described, albeit rarely, in the literature.

Association between neurofibromatosis type 1 and piebaldism confirmed by genetic analysis. Review of the literature.

L. Aranibar Durán — 2025-02-09

Other cases fulfilling the diagnostic criteria for NF1 and piebaldism have been described in the literature, suggesting a possible association between these conditions. However, this relationship remains uncertain. To our knowledge, the current case is the first to document the association between neurofibromatosis type 1 and piebaldism, confirmed by genetic analysis, and to underline the importance of genetic studies in the early diagnosis of these conditions.

Pigmented epithelioid melanocytoma: a pediatric case.

A. El Bouhmadi — 2025-02-09

Pigmented epithelioid melanocytoma (PEM) is a rare, low-grade melanocytic tumor that primarily affects children and young adults. This report details a case of an 8-year-old girl presenting with a pigmented scalp lesion. Clinical examination revealed a black nodular tumor, confirmed through dermoscopy and histopathology to be PEM, characterized by large, pigmented melanocytes with epithelioid or spindle-shaped morphology. Immunohistochemistry showed positive staining for Melan-A and HMB-45. The lesion was surgically excised with no lymph node involvement or metastasis on follow-up. Despite potential regional lymph node metastasis, PEM typically has a benign clinical course, and complete surgical excision remains the preferred treatment.

An unusual and severe cutaneous presentation of multisystem Langerhans cell histiocytosis.

M. Sadhwani — 2025-02-09

Langerhans cell histiocytosis (LCH) is characterized by the proliferation of Langerhans cells in the skin and/or various internal organs. In infants it often presents with skin lesions, ranging from a seborrheic dermatitis-like picture to nodules and plaques. In the current report we describe a case of multisystem LCH in a three-month-old child, who initially presented with ulcerated and crusted cutaneous lesions on the head and trunk. A comprehensive analysis was essential to arrive at the diagnosis. The child responded well to chemotherapy.

Efficacy of oral losartan in recessive dystrophic epidermolysis bullosa.

S. Jangid — 2025-02-09

Dystrophic epidermolysis bullosa is caused by a variation in the COL7A1 gene, which encodes type VII collagen. The severity of the disease depends on the type of genetic variant and the domain of the affected protein. We present the case of a 7-day-old infant with recessive dystrophic epidermolysis bullosa, who was treated with oral losartan and showed significant improvement.

Tuberous sclerosis complex: description of a family case of three brothers with phenotypic variability.

A.V. Mun — 2025-02-09

Tuberous sclerosis complex (TS) is a rare autosomal dominant disease caused by mutations in the TSC1 or TSC2 genes, leading to dysregulation of the mTORC1 signaling pathway. This results in the development of benign tumors and hamartomas in various organs, including the skin, brain, kidney, lung, and heart. This study presents a unique case of three siblings with TS, highlighting the phenotypic variability of the disease within a single family. The eldest brother had prominent dermatological features and mild neurological symptoms, while the middle brother had severe neurological impairment despite milder skin involvement. The youngest brother had minimal manifestations, including limited skin lesions and attention deficit, but no seizures. These findings highlight the complexity of TS, underscoring the need for individualized and multidisciplinary management approaches. Early diagnosis and targeted therapies, such as mTOR inhibitors, are critical to improve the prognosis and quality of life of affected individuals.

Necrotising cellulitis in an ex preterm neonate with group B streptococcal sepsis.

F. Mcdonald — 2025-02-09

It is well known that necrotic skin changes can occur with different microbial agents. However, there are very few reported cases of necrotic skin changes with Streptococcus B infection, of which all appear to be in patients with underlying immunodeficiencies. Here we present the case of a 6-week-old girl, who presented to hospital with necrotic skin changes to the occipital area of her head and whose blood cultures later grew Group B Streptococcus.

Localized congenital erosive vesicular dermatosis healing with elastic reticulated scars.

V.B. Hunashikatti — 2025-02-09

Congenital erosive vesicular dermatosis (CEVD) healing with elastic reticulated scars is a rare condition that predominantly affects premature infants and presents at birth with vesicles and erosions. The lesions usually heal within a few months, leaving a characteristic supple and reticulated scar. It affects 75% of the body surface, sparing the palms and soles. In the current work, we present a case in a full-term child with a localized form of CEVD of the scalp associated with posterior fossa cysts and an atrial septal defect.

Use of 365 nm fluorescence dermoscopy for diagnosis of pityriasis versicolor in a toddler.

S. Patil — 2025-02-09

Pityriasis versicolor, a superficial fungal infection caused by Malassezia species, is not uncommon in children. A 15-month-old boy with hypopigmented macules on the face, trunk, and upper and lower extremities was reported. Diagnosis was facilitated by 365-nm fluorescence dermoscopy, which revealed a characteristic yellow-green fluorescence, allowing rapid confirmation of the diagnosis. This case highlights the utility of fluorescence dermoscopy as a noninvasive diagnostic tool.

Neonatal kerion celsi superimposed on atopic dermatitis.

F.C. Aba — 2025-02-09

Kerion celsi is a deep fungal infection subtype involving hair follicular units, predominantly affecting children aged 3 to 7 years. This condition is rarely documented in infancy. Systemic terbinafine, combined with topical antifungal agents, may represent a safe and effective therapeutic option in early infancy. Atopic dermatitis is a chronic inflammatory disease that increases the risk of bacterial, viral, and fungal infections. Moreover, it's a recognized risk factor that can exacerbate the severity of fungal infections. These conditions may co-occur in the presence of immune deficiency syndromes, particularly in early childhood. Co-existing cases with suspected immunodeficiency necessitate thorough investigation to ensure accurate diagnosis and optimal management. This case report aims to present therapeutic approaches employed in the treatment of an infant diagnosed with kerion celsi and moderate atopic dermatitis.

Thoracic faun tail associated with spinal dysraphism.

K. Jagadishkumar — 2025-02-09

Spinal dysraphism is a congenital condition involving spine, spinal cord, or nerve roots. Spinal dysraphism may be associated with cutaneous markers in more than half of cases, which include lipoma, dermal sinus, hypertrichosis, dimple, hyperpigmentation and capillary haemangioma. Faun tail is a well-defined area of congenital hypertrichosis, typically triangular or cicumscribed situated over the lumbosacral region. Faun tail itself is rare; its location at thoracic level is even rarer. Here with we are reporting 14 months old baby with 2 cutaneous markers, Faun tail at thoracic region along with sacral dimple associated butterfly vertebrae and diastematomyelia of T5-T6.

Facial purpuric cellulitis after ear piercing.

K. Kaddar — 2025-02-09

Ear piercing in infants, a common cultural practice, can lead to local complications, including infections. We report the case of a rare purpuric form of dermohypodermitis in a one-year-old infant following an earlobe piercing. The infant was treated with intravenous antibiotics and local care, resulting in prompt resolution. The case highlights the importance of vigilant care and hygiene during piercing procedures, particularly in young children, to prevent severe complications.

Norwegian scabies in a 4-month-old child after topical corticosteroid therapy.

K. Jaatar — 2025-02-09

Scabies remains a significant global health issue, affecting over 300 million individuals annually, with the highest incidence observed in children under two years of age. This report presents a case of a 4-month-old boy initially misdiagnosed with atopic dermatitis, for which he received topical corticosteroids. The corticosteroid treatment led to the progression of his condition into crusted scabies, characterized by a hyperinfestation of Sarcoptes scabiei mites. Upon admission to our dermatology department, the child exhibited widespread erythematous papules and crusted lesions, alongside family members who reported intense pruritus and similar lesions. Microscopic examination confirmed the presence of numerous mites and eggs. After ceasing corticosteroid use, the child was treated with Benzyl Benzoate, with significant improvement noted at the 3-week follow-up. This case highlights the potential for misdiagnosis and inappropriate corticosteroid use in infants, leading to local immunosuppression and exacerbation of scabies. The findings underscore the necessity for awareness and proper diagnostic measures to prevent similar occurrences, particularly in young children.

An unusual side effect of topical corticosteroids.

J. Rebelo Lima — 2025-02-09

We present a case of a 23-day-old newborn that was brought to the emergency department due to a well delimited, circular pale area around the umbilicus after 3 days of treatment with topical betamethasone valerate for a purulent discharge from the umbilical stump. The most likely diagnosis was an adverse drug reaction (ADR) to the topical corticosteroid (TC), specifically vasoconstriction. Complete resolution was observed after discontinuation of the drug in question.
Although uncommon in the neonatal period, the phenomenon of skin pallor caused by vasoconstriction is a described ADR of TC (1). It is a reversible condition (as demonstrated in this case), and management involves reassuring the family and discontinuing the treatment.

Contents, issue 1, vol. 35, 2025

STAFF STAFF — 2025-02-09

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European Journal of Pediatric Dermatology, issue 1, vol. 35, 2025

STAFF STAFF — 2025-02-09

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