European Journal of Pediatric Dermatology

Contents, issue 3, vol. 35, 2025

STAFF STAFF — Mon, 21 Jul 2025 00:00:00 +0000

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Omphalomesenteric duct remnant in a child with neurofibromatosis type 1.

Morrison E., Forsyth L., Ngan K. — Mon, 21 Jul 2025 00:00:00 +0000

Omphalomesenteric duct remnants occur due to incomplete resorption of the embryologic connection between the yolk sac and the primitive midgut during gestation. We present the case of a 6-year-old boy with a family history of neurofibromatosis type 1 presenting with café au lait macules and an umbilical nodule, histology of which confirmed an omphalomesenteric duct remnant. There is no known association between neurofibromatosis type 1 and omphalomesenteric duct remnants, but investigation and management of these lesions is discussed.

Schamberg purpura in an 11-year-old girl.

Jaatar K., Aboudourib M., Bendaoud L., Amal S., Hocar O. — Mon, 21 Jul 2025 00:00:00 +0000

Background: Schamberg's purpura, also known as progressive pigmented purpura or purpuric capillaritis, is a chronic, benign dermatosis characterized by petechiae and hemosiderin-laden macules. It predominantly affects middle-aged men but is less frequently reported in children.

Case Report: We describe the case of an 11-year-old girl presenting with asymptomatic pigmented macules on the upper and lower limbs, evolving progressively over two years. Clinical examination revealed multiple non-palpable reddish-brown macules, which were non-pruritic and did not blanch under vitropression. Dermoscopy identified dark red dots and globules corresponding to extravasated erythrocytes, along with a diffuse brownish background suggestive of hemosiderin deposition. A complete blood count and coagulation panel were normal, excluding systemic causes of purpura. Histopathological examination confirmed perivascular lymphocytic infiltration, erythrocyte extravasation, and hemosiderin deposition, consistent with Schamberg’s purpura. The patient was treated with oral vitamin C, high-potency topical corticosteroids, and a mucopolysaccharide polysulfate-based gel, leading to complete resolution within six weeks and no recurrence at a two-year follow-up.

Discussion: Schamberg’s disease is the most common form of pigmented purpuric dermatosis, often presenting as cayenne pepper-like petechiae on the lower limbs. While dermoscopic findings frequently include coppery-red pigmentation and a brown network, our case notably lacked the latter. Histopathology revealed characteristic vascular changes, including endothelial swelling, erythrocyte extravasation, and perivascular lymphocytic infiltration. No standardized treatment exists, but topical corticosteroids and vitamin C appear beneficial.

Conclusion: Schamberg’s purpura remains an underrecognized yet distinct entity in pediatric patients. Its clinical, dermoscopic, and histopathological features align with adult cases. While self-limiting, symptomatic cases may benefit from supportive therapies. Further studies are needed to establish standardized management protocols.

Lichen spinulosus in a patient with Wilson’s disease.

Okan G., Vural P., Demirkesen C. — Mon, 21 Jul 2025 00:00:00 +0000

Lichen spinulosus (LS) is a rare dermatosis typically observed in children and young adults with unclear pathogenesis. Wilson's disease (WD) is an autosomal recessive disorder characterized by pathological copper accumulation primarily in the liver, with subsequent effects on the other tissues. Oxidative stress resulting from increased free radical production along with deficiencies in antioxidant defence is believed to play a central role in WD pathogenesis. We report the a 12-year-old girl with WD whose symptoms were managed with beta-carotene and zinc rich supplements.

Urticaria-angioedema complicated by intussusception.

Mon, 21 Jul 2025 00:00:00 +0000

Angioedema is abrupt swelling of the skin involving the deeper layers of the sub dermis and classically affects lips and eye(periorbital). It can involve mucous membranes of upper respiratory and gastrointestinal tracts also. Acute angioedema attacks can be mast cell-mediated ( histaminergic) or bradykinin-mediated. In histaminergic angioedema, the signs and symptoms include urticaria, flushing, generalized pruritus and bronchospasm. Bradykinin mediated angioedema examples like hereditary angioedema (HAE) typically present without symptoms of pruritus or urticaria. They commonly present with gastrointestinal symptoms which include nausea, vomiting, diarrhea, abdominal pain and rarely intussusception which are the result of bowel wall edema. However in histaminergic angioedema, intussusception is not reported. We present a case of mast cell-mediated( histaminergic) angioedema in a 14 year old boy who presented with urticaria, flushing, generalized pruritus and bronchospasm later developed prominent GIT symptoms with intussusception. He had intermittent transient intussusception confirmed by sonography and responded to pneumatic reduction.

Role of antimicrobial peptides and cathelicidins in skin barrier repair and the management of atopic dermatitis: challenges and perspectives.

Abdullaeva D.A., Mannanov A.M. — Mon, 21 Jul 2025 00:00:00 +0000

Background. Atopic dermatitis (AD) is a chronic, complex inflammatory skin disease characterized by impaired barrier function and immune system dysregulation (1). Growing evidence highlights the crucial role of antimicrobial peptides (AMPs), particularly cathelicidins such as LL-37, in maintaining skin integrity, modulating immune responses, and defending against microbial infections. AMP deficiency is associated with increased susceptibility to infections and chronic inflammation, thereby contributing to disease severity (2).
Objectives. This review aims to synthesize current knowledge on the biological functions of cathelicidins in skin health, evaluate the challenges in developing cathelicidin-based therapies, and suggest future directions to facilitate their clinical application in dermatology.
Methods. A comprehensive literature review was conducted, focusing on the structure of cathelicidins, their mechanisms of action, antimicrobial and immunomodulatory properties, production and delivery challenges, and mechanisms of resistance. Recent clinical trial findings and strategies to overcome current limitations were also examined.
Results. Cathelicidins exert multiple beneficial effects, including antimicrobial activity, immune regulation, and promotion of wound healing. However, their clinical application faces several obstacles: proteolytic degradation, high production costs, formulation challenges, microbial resistance, and potential safety risks such as pro-inflammatory and tumorigenic effects. Advances such as peptide engineering, protective delivery systems, recombinant production in plants and microorganisms, and endogenous induction strategies (e.g., vitamin D supplementation) show promising potential for overcoming these hurdles.
Conclusions. Cathelicidins hold significant therapeutic potential for treating atopic dermatitis and other dermatologic conditions due to their dual antimicrobial and skin barrier-repair functions. To fully realize this potential, integration of advances in peptide design, formulation science, and biotechnology is needed. A multidisciplinary strategy will be key to translating cathelicidins into safe, effective, and clinically applicable treatments.

Sebaceous nevus: a retrospective study of 104 cases.

Mazeda I., Alvarenga J., Machado S. — Mon, 21 Jul 2025 00:00:00 +0000

Sebaceous nevus is a congenital hamartoma usually diagnosed at birth and typically benign. This 20-year retrospective study analyzed 104 pediatric cases to evaluate clinical evolution, histopathological findings, and therapeutic strategies. Most lesions were stable and localized to the scalp, with only one case of benign neoplastic transformation. Surgery was performed in selected cases due to progression or esthetic concerns, while over half of the patients were managed conservatively. These results underscore the low risk of malignancy of nevus sebaceous in childhood and suggest a cautious and individualized approach, reserving treatment for evolving or symptomatic lesions.

Vulvar mastocytosis: case report and review of the literature.

Mon, 21 Jul 2025 00:00:00 +0000

The case of an 11-year-old girl with a history of recurrent pruritic swelling of the right vulvar lip, which progressed over 18 months, was reported. The diagnosis of mastocytosis was confirmed by immunohistochemical analysis, which showed positivity of the markers CD117 and CD68 in the cells. To date, only twelve cases of vulvar mastocytosis have been reported, which predominantly involved the labia majora. The mean age at diagnosis is 10.5 years, with a significant delay between the onset of symptoms and diagnosis, underlining the importance of suspecting mastocytosis in the presence of vulvar nodules.

Mucocutaneous cysts in the newborn.

Mon, 21 Jul 2025 00:00:00 +0000

Mucocutaneous cystic lesions in newborns are common and benign findings that often cause unwarranted concern due to their unusual locations. This case series highlights four distinct presentations: congenital milia, Epstein pearls (oral and penile), Bohn’s nodules, and smegma pseudocysts, emphasizing their clinical and dermoscopic features. Awareness of these physiological lesions is essential to avoid misdiagnoses, reassure parents, and prevent unnecessary interventions.

Diffuse hyperpigmentation in children: description of three cases and review of the literature.

Ballal S., Prathibha J.P., Sequeira V.E., Augustine M., Poornima R.N. — Mon, 21 Jul 2025 00:00:00 +0000

Diffuse hyperpigmentation in the pediatric population is a rare condition with multiple causes. We present three cases of diffuse hyperpigmentation in infants, each with a different underlying diagnosis: primary adrenal insufficiency, familial glucocorticoid deficiency, and neonatal hemochromatosis. All three entities presented with diffuse hyperpigmentation in the neonatal-infantile period, along with systemic features and abnormal laboratory parameters. Early diagnosis and appropriate treatment are crucial for these conditions, as they can have significant health consequences.

H syndrome with Arnold-Chiari malformation due to a novel SLC29A3 mutation.

Narula A.S., Khan F., Mukhopadhyay S., Bhandari A. — Mon, 21 Jul 2025 00:00:00 +0000

H syndrome is an autosomal recessive inherited skin disorder caused by biallelic mutations in the SLC29A3 gene. A rare case of H syndrome is described in an 11-year-old girl, who presented with characteristic hyperpigmented and hypertrichotic plaques, skeletal deformities, sensorineural hearing loss, and multiorgan involvement. In particular, MRI revealed Arnold-Chiari malformation, a previously unreported association. Histological findings of dermal collagenization with CD68 positive histiocytic infiltrate and the novel homozygous SLC29A3 mutation in whole exome sequencing confirmed the diagnosis.

Griscelli syndrome: a rare cause of hair and skin hypopigmentation.

Maheshwari R., Phiske M., Naik B., Someshwar S. — Mon, 21 Jul 2025 00:00:00 +0000

Griscelli Syndrome (GS) is a rare autosomal recessive disorder (approximately 150 cases reported) characterized by light-colored skin and hair, with large clumps of pigment seen in the hair shaft. Three types are distinguished: Type 1, associated with neurological impairment; Type 2, with immunodeficiency; and Type 3, involving only the skin. Of the three subtypes, Types 1 and 3 are rare, with only 27 cases of Type 3 GS reported. Prognosis depends on the presence of neurological (Type 1) or immunological (Type 2) involvement.
A 7-year-old child born to non-consanguineous parents presented with multiple hypopigmented macules and patches on the trunk, extremities, and face, present since birth, along with light-colored hair limited to the frontal scalp, with black hair elsewhere – also present since birth. The final diagnosis of Griscelli Syndrome Type 3 was based on clinical and trichoscopic findings, and a normal systemic examination. The unusual feature of this case is the absence of parental consanguinity, previously reported in only two cases in India.

Confluent and reticulated papillomatosis associated with PFAPA syndrome.

Ahmed O., Mehmood H., Torchia D. — Mon, 21 Jul 2025 00:00:00 +0000

Confluent and Reticulated Papillomatosis (CRP), also known as Gougerot-Carteaud syndrome, is a very rare dermatosis with an as-yet unclear etiopathogenesis. It is characterized by asymptomatic, hyperpigmented papules and plaques, most commonly affecting the upper trunk, axillae, and neck. We present a clinical case in a 14-year-old girl, in whom the cutaneous manifestations of CRP are associated with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) syndrome.

Ecthyma gangrenosum in a child with acute myeloid leukemia.

Mon, 21 Jul 2025 00:00:00 +0000

Ecthyma gangrenosum (EG) is a rare but potentially life-threatening skin infection, most commonly caused by Pseudomonas aeruginosa. It typically affects immunocompromised patients, particularly those with hematologic malignancies and neutropenia. We report a case of EG in a 4-year-old child with acute myeloid leukemia, who developed multiple necrotic skin lesions during hospitalization for febrile neutropenia. This case highlights the importance of early recognition and aggressive management of EG in immunocompromised pediatric patients presenting with rapidly evolving necrotic skin lesions.

From hair to heart: how to suspect Carvajal syndrome in children.

Sreenivasamurthy R.H., Mehta P., Doddaiah N., Vunnam V. — Mon, 21 Jul 2025 00:00:00 +0000

Carvajal syndrome is an autosomal recessive disorder due to a defect in the desmoplakin gene. It is characterized by woolly hair, striated palmoplantar keratoderma, and left ventricular cardiomyopathy. While hair and skin features develop during childhood, cardiac symptoms do not appear until adolescence. We describe the case of a 3-year-old boy who presented with cough, fever, vomiting and loose stools, respiratory distress, and tachycardia. Tests revealed arrhythmogenic cardiomyopathy and acute viral myocarditis. The presence of woolly hair and palmoplantar keratoderma raised suspicion of a cardiocutaneous syndrome. Genetic testing revealed a mutation in the desmoplakin gene, leading to the diagnosis of Carvajal syndrome.

Lichen planopilaris in children: report of two cases.

Mon, 21 Jul 2025 00:00:00 +0000

Lichen planopilaris (LPP) is an uncommon cause of primary cicatricial alopecia in children, often underrecognized due to its rarity in this age group. We report two cases of LPP in male patients under 10 years of age, both presenting with scarring alopecia of the vertex, perifollicular erythema, and absence of follicular ostia on trichoscopy. In both cases, LPP was diagnosed and managed with topical corticosteroids. Drawing from these cases and available literature, we propose a practical diagnostic algorithm to support clinicians in identifying pediatric LPP early. This tool may facilitate accurate diagnosis, help differentiate LPP from other causes of patchy alopecia, and enable timely treatment to prevent irreversible hair loss.

Metastatic spitzoid melanoma in a 6-year-old girl.

Rojas Angarita P., Leal Reina S., Rodriguez-Lechtig B., Rueda Cadena X. — Mon, 21 Jul 2025 00:00:00 +0000

Spitzoid melanoma is an extremely rare melanocytic neoplasm in childhood and is often difficult to distinguish clinically and histopathologically from other spitzoid lesions. We present the case of a 6-year-old girl diagnosed with pediatric spitzoid melanoma harboring a BRAF V600E mutation, with regional lymph node metastasis. The patient was treated with pembrolizumab and local cryotherapy for palliative purposes. Due to disease progression, targeted salvage therapy was initiated. The patient remains under multidisciplinary follow-up, has tolerated treatments well, and has shown no evidence of visceral progression to date. This case highlights the diagnostic complexity of spitzoid melanocytic tumors in pediatric patients and emphasizes the importance of integrating histologic and molecular findings to guide therapeutic decisions.

European Journal of Pediatric Dermatology, issue 3, vol. 35, 2025

STAFF STAFF — Mon, 21 Jul 2025 00:00:00 +0000

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