European Journal of Pediatric Dermatology

Type 3 Griscelli’s syndrome in two siblings.

A. G — 2026-10-26

Introduction. Gray hair syndrome is a collective term used to describe a group of rare genetic disorders that cause gray hair with other symptoms. It includes Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), Elejalde syndrome (ES).
All these disorders are rare autosomal recessive disorders presenting at birth. All three conditions present with similar skin and hair changes but differ in terms of immunological and neurological manifestations. These disorders are usually fatal in childhood.
Case report. Two young brothers, aged 9 years (Patient 1) and 8 years (Patient 2), born to consanguineous parents presented with gray hair over the scalp and body since birth and dark pigmentation over the face since 4 years. Their developmental milestones were normal and immunized to date. There was no history of recurrent fever or respiratory tract infections. Their scholastic performance was on par with the children of the same age group. Cutaneous examination revealed gray hair over the body including scalp, eyebrows, eyelashes, forearms and legs, bronze tan pigmentation over face and neck. Trichoscopy of hair shaft showed uneven clusters of melanin aggregates in the medulla giving “road dividing line” appearance.
Discussion. Griscelli syndrome (GS) also known as “partial albinism with immunodeficiency” was first described by Griscelli and Siccardi in 1978. Most cases have been reported from Turkish and Mediterranean populations.
The three types of Griscelli syndrome are caused by mutations in different genes: Type 1 results from mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 results from mutations in the MLPH gene. As treatment, prognosis and genetic counselling differ to a great extent among various types, accurate genetic diagnosis early in life plays a crucial role.

Squamous cell carcinomas in a girl with ichthyosis and severe malnutrition.

T.F. Assegaf — 2026-10-26

Background. Ichthyosis vulgaris (IV) is the most common inherited keratinization disorder, characterized by fine scaling and xerosis with sparing of flexural areas. Although generally benign, chronic barrier dysfunction and inflammation in IV can increase susceptibility to infection and, in rare cases, malignancy. The association between IV and squamous cell carcinoma (SCC) has not been previously reported, particularly in the pediatric population.
Case report. A 9 year old girl with a six year history of generalized dry, scaly, and pruritic skin presented with a foul odor and nonhealing ulcerated lesions on the back and nose. Examination revealed diffuse scaling, fissures, and erythematous plaques with verrucous, ulcerated masses. Dermoscopy showed a criss-cross pattern of fine white scales. Cytologic examination of fine-needle aspiration cytology revealed malignant epithelial cells with spindle morphology, nuclear pleomorphism, coarse chromatin, and eosinophilic cytoplasm, consistent with squamous cell carcinoma. The patient also exhibited severe malnutrition, anemia, and hypoalbuminemia. Management included topical mometasone furoate–fusidic acid combination cream, white petrolatum, 4% salicylic acid, systemic antibiotics, nutritional supplementation, and symptomatic therapy. On follow-up, skin scaling and odor improved, but the tumor remained extensive. Due to the patient’s poor clinical status, palliative management was advised by pediatric oncology, as chemoradiotherapy was not feasible.
Discussion. Malignant transformation in ichthyosis is exceedingly rare and more commonly described in severe congenital subtypes such as lamellar ichthyosis or congenital ichthyosiform erythroderma. The present case suggests that chronic inflammation, recurrent trauma from fissuring, and malnutrition may create a procarcinogenic environment even in milder ichthyotic forms. This case underscores the importance of vigilance for nonhealing, verrucous, or ulcerated lesions in chronic ichthyosis.
Conclusion. This is the first documented case of squamous cell carcinoma arising in a child with ichthyosis vulgaris. Chronic epidermal barrier dysfunction, persistent inflammation, and systemic malnutrition likely contributed to carcinogenesis. Early recognition, histopathologic confirmation, and multidisciplinary management are essential to improve outcomes in this rare but serious complication.

Mild congenital erythropoietic porphyria with predominant scarring.

M. Sanaga — 2026-10-26

Congenital erythropoietic porphyria is a rare inherited disorder of heme biosynthesis, marked by a myriad of clinical manifestations that contribute to significant morbidity and reduced life expectancy. This case is notable for its current quiescent nature following typical cutaneous involvement in photoexposed areas, supporting a diagnosis of congenital erythropoietic porphyria with no systemic features. Fractional CO₂ laser was successfully employed for facial scars without triggering relapse or exacerbation. This case is presented due to the rarity of such a clinical course and safe cosmetic intervention.

Beyond silver nitrate: complete clinical response with topical timolol as monotherapy for umbilical granuloma.

I. Navarro Sáez — 2026-10-26

Umbilical granuloma is the most common umbilical abnormality in infancy and is traditionally treated with silver nitrate. We report the case of a 6-month-old infant with an umbilical granuloma that developed following umbilical cord separation, treated with once-daily topical timolol 1% for four weeks, resulting in lesion regression without adverse effects. To the best of our knowledge, this case represents the first reported instance of clinical resolution achieved with topical timolol monotherapy. Although topical timolol may represent a potential therapeutic alternative, prospective studies are needed to confirm its efficacy and safety and to establish the optimal treatment regimen.

Contents, issue 4, vol. 36, 2026

STAFF STAFF — 2026-10-26

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European Journal of Pediatric Dermatology, issue 4, vol. 36, 2026

STAFF STAFF — 2026-10-26

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Atypical Gianotti-Crosti syndrome associated with Epstein-Barr virus in a 3-month-old infant: a case report and systematic literature review.

M. Yeral — 2026-10-26

Gianotti-Crosti syndrome (GCS) is a self-limiting infantile exanthem that typically presents with monomorphic acral papules. We report a case of primary Epstein-Barr virus (EBV)-associated GCS in a 3-month-old infant featuring an extensive vesiculobullous eruption with trunk involvement. To characterize the clinical spectrum reported in the literature, PubMed, Scopus, Web of Science, and the Cochrane Library were searched from January 1983 to March 2026 in accordance with PRISMA 2020 guidelines. Including the present patient, 45 laboratory-confirmed cases from 25 sources were analyzed. Among 42 patients with available age data, four were under one year of age. Vesiculobullous morphology occurred in only two cases, whereas trunk involvement was reported in approximately 35% of cases. Lymphadenopathy and elevated liver enzymes were identified in 52% and 56% of cases, respectively. EBV-associated GCS can thus present in early infancy and extend beyond its classic morphology and distribution. Recognition of these atypical variants may prevent unnecessary diagnostic workups and support conservative management.

Longitudinal improvement in epidermolysis bullosa simplex patients with de novo KRT5 mutations.

V.R. Stichert — 2026-10-26

Background/Objectives. Epidermolysis bullosa simplex (EBS) due to de novo KRT5 mutations often presents in infancy with severe multisystem disease, raising concern for poor long-term prognosis and influencing decisions regarding life-sustaining care. Limited longitudinal data make counseling and management decisions challenging. This study characterized early disease course and long-term outcomes across cutaneous, extracutaneous, functional, and symptom-based domains.
Methods. A retrospective chart review was conducted of patients with confirmed de novo KRT5 EBS followed at an interdisciplinary epidermolysis bullosa center.
Results. Four male patients were identified, all requiring intensive care (30-90 days) for severe early disease with extensive skin involvement, feeding impairment, respiratory complications, and analgesic requirements. Three patients experienced additional hospitalizations within the first year of life for infectious and respiratory complications, while one was hospitalized for failure to thrive. Over time, blistering became less frequent and localized, feeding and motor function improved, and pain burden decreased. Pruritus followed a variable course, while neurobehavioral challenges emerged later in childhood and required ongoing intervention.
Conclusions. Severe early presentation in de novo KRT5 EBS is not indicative of long-term disease severity. Life-sustaining care is warranted during the early disease phase as meaningful improvement across clinical domains can occur with subsequent multidisciplinary management.

Evaluation of serum C-reactive protein/albumin ratio in vitiligo patients.

A.M. Soliman — 2026-10-26

Introduction. Vitiligo is an acquired chronic disease of the skin and mucous membranes, characterized by well-circumscribed depigmented macules and patches resulting from melanocyte damage. C-reactive protein is secreted by the liver in response to inflammatory cytokines. Albumin, also synthesized by the liver, exhibits reduced levels during acute inflammation.
Aim. To estimate the serum C-reactive protein-to-albumin ratio in vitiligo patients and determine whether it can differentiate between active and stable vitiligo.
Patients and methods. This study was conducted at the Dermatology and Venereology Outpatient Clinic of the Medical Excellence Center at the National Research Centre between June 2024 and July 2025, involving 42 vitiligo patients aged 18 to 55 years, following ethical committee approval. Vitiligo patients were divided into two groups: active and stable. Healthy individuals served as the control group. Blood samples were evaluated for serum C-reactive protein (CRP) and albumin levels
Results. The mean serum CRP level in the active vitiligo group was higher (4.48±2.50) than in the stable group (3.25±0.57), and both were higher than in the control group (2.02±0.36). Similarly, the CRP-to-albumin ratio (CAR) showed statistically significant results across all comparisons. Therefore, serum CRP levels and CAR may prove useful as innovative biomarkers for assessing vitiligo activity.
Conclusion. C-reactive protein and CAR are sensitive diagnostic and prognostic markers in several systemic inflammatory disorders; thus, their serial measurement can be helpful in evaluating disease activity.

Clinical and biochemical markers in pediatric alopecia areata: correlation with disease severity and response to metabolic correction.

K.A. Abidov — 2026-10-26

This study aimed to evaluate the relationship between the clinical severity of alopecia areata (AA) in children and biochemical markers of folate and cobalamin metabolism, hyperhomocysteinemia, and oxidative stress, as well as to assess the efficacy of a pathogenetically oriented therapy designed to correct these metabolic disturbances. A controlled prospective study included 122 children aged 4 to 17 years with AA (patchy, subtotal, and total/universal forms) and 30 healthy controls. Disease severity was assessed using the SALT score and the Children’s Dermatology Life Quality Index (CDLQI). Serum levels of folic acid, vitamin B12, homocysteine, malondialdehyde (MDA), and total antioxidant activity (AOA) were measured. Patients were assigned to standard therapy or an integrated treatment that additionally included folic acid, vitamin B12, and an antioxidant complex (L-carnitine, tocopherol, coenzyme Q10) for 3 months. A progressive deficiency of folic acid and vitamin B12, elevated homocysteine and MDA levels, and a reduction in AOA were observed with increasing clinical severity; a strong correlation of these factors with the SALT score was also documented. The integrated regimen produced significantly higher rates of clinical remission, a greater reduction in SALT and CDLQI scores, normalization of biochemical parameters, and lower recurrence rates at 6 and 12 months. These findings support the routine evaluation of folate and cobalamin status and oxidative stress markers in pediatric AA, as well as the inclusion of targeted metabolic correction in comprehensive management, particularly for subtotal and total forms.

Idiopathic eruptive macular pigmentation: a case series with clinicodermoscopic and histopathological correlation.

S. Yumnam — 2026-10-26

Idiopathic eruptive macular pigmentation (IEMP) is a rare benign pigmentary disorder that predominantly affects children and adolescents. We report a series of four patients presenting with multiple asymptomatic hyperpigmented macules and patches on the trunk and proximal extremities, in the absence of preceding inflammation or drug exposure. Dermoscopic examination revealed homogeneous brown pigmentation with a faint pigment network, while histopathology consistently showed basal layer hyperpigmentation with dermal melanophages and papillomatosis, without interface dermatitis. Recognition of these clinicodermoscopic and histopathological features is important for distinguishing IEMP from other acquired hyperpigmentary disorders and for avoiding unnecessary investigations or treatment.

The “dot-in-hole” sign in pediatric cutaneous cysticercosis: a non-invasive diagnosis.

M.D. Samuel — 2026-10-26

Cutaneous cysticercosis can present as non-specific subcutaneous nodules and may be misdiagnosed as other benign soft-tissue lesions. We report the case of a 4-year-old child with two painless nodules on the back. High-resolution ultrasonography demonstrated a subcutaneous cyst containing an eccentric echogenic scolex, producing the characteristic “dot-in-hole” sign. Serology confirmed the diagnosis, ophthalmologic evaluation was normal, and the nodules regressed after albendazole treatment under corticosteroid coverage. This case illustrates how ultrasonography can establish a rapid, non-invasive, radiation-free diagnosis of pediatric cutaneous cysticercosis, avoiding unnecessary surgical excision.

Pediatric variegate porphyria: cutaneous clues to a hidden metabolic disorder.

U. Milovanovic — 2026-10-26

Hereditary porphyrias are inherited metabolic disorders affecting critical enzymes of the heme biosynthesis pathway. Variegate porphyria (VP) is the most common neurocutaneous porphyria. VP involves dysfunction of the protoporphyrinogen oxidase (PPOX) enzyme, leading to accumulation of protoporphyrinogen and other upstream metabolites and hence of the cutaneous and neurological symptoms. The cutaneous manifestations of VP include bullae and blistering in sun-exposed areas, such as the hands and feet, along with diffuse hypertrichosis. These symptoms occur due to photoactivation of porphyrins. We report a case of variegate porphyria in a 12-year-old patient. This case highlights the importance of considering porphyria in pediatric photosensitive bullous disorders, particularly when accompanied by unexplained abdominal or neurological symptoms.

Amniotic band syndrome of the trunk: a case report.

E. Enriquez — 2026-10-26

Amniotic band syndrome (ABS) is a rare condition with a wide spectrum of clinical manifestations. We present the case of a 3-year-old female patient with a circumferential constriction band around the trunk. Only a few similar cases have been reported in the literature.

Plaque-like myofibroblastic tumor: report of a recurrent pediatric case and review of the literature.

F. Galdeano — 2026-10-26

Plaque-like myofibroblastic tumor (PLMT) is an uncommon, frequently misdiagnosed dermal spindle cell neoplasm that primarily affects infants and young children. We present the case of a 2-year-old girl with a slowly growing scapular plaque that, following an initial misdiagnosis of dermatofibroma, demonstrated abrupt growth, pain, and local recurrence after excision. Definitive diagnosis was established via immunohistochemical analysis, which revealed strong, uniform positivity for smooth muscle actin (SMA) and negative expression of CD34, highlighting the myofibroblastic lineage of the lesion. This report emphasizes that PLMT, while benign, exhibits locally aggressive behavior and requires complete surgical excision with clear deep margins to ensure a favorable long-term prognosis.