Skin‐Colored Papules on the Face and Chest of a Female Patient

ABSTRACT

Scleromyxedema is an unpredictable but progressive disease and can be lethal due to systemic involvement if not diagnosed timely. Hence, we require a keen observational clinical eye to diagnose the condition from its differentials, along with further research into treatment modalities to treat this condition.

1. Introduction

Scleromyxedema is a rare progressive cutaneous mucinosis that can result in numerous systemic involvements, including cardiopulmonary, musculoskeletal, gastrointestinal, and neurologic systems. It usually affects middle‐aged and elderly patients, with no gender predilection. The exact pathology of scleromyxedema is still unknown, which makes difficulties in the treatment advancements [1, 2].

This case is particularly noteworthy because it involves a 16‐year‐old female, an age group in which scleromyxedema is exceptionally rare. Most published cases describe the disease in adults, and pediatric presentations are scarcely documented in the literature. Furthermore, the patient exhibited systemic features and laboratory findings that closely mirror adult presentations, raising important questions about disease onset, progression, and treatment in younger individuals.

2. Case Presentation

A previously healthy 16‐year‐old female presented with firm papules all over her face and trunk for four years. She reported no dyspnea, dysphagia, limb weakness, or arthralgia. Physical examination displayed diffuse skin‐colored papules and plaques involving the face, upper trunk, and mid‐chest portion (Figure 1). Physical examination revealed numerous, 1–2 mm‐sized papules, with a firm and waxy texture, arranged in a widespread, symmetrically concentrated pattern all over the face, upper trunk, and mid‐chest, sparing the mucosae. The rash primarily began on the face and then developed into the trunk. The lesions were asymptomatic, and she did not report pruritus. The surrounding skin was indurated. Some lesions on the face were scaly; also, there were some pustules on the midface. The glabella involved slight longitudinal furrowing, and there was no madarosis. The skin over the other surfaces was not significant (Figure 1). General examination showed no abnormal findings. Cardiac examination revealed no abnormal sounds on auscultation. The lungs sounded clear. Muscular force and movements were within normal range. Abdominal examination showed no pain, tenderness, or organomegaly on palpation.

FIGURE 1.

Diffuse coalescing skin‐colored papules involving the face (A), upper trunk (B), and mid‐chest portion (C) of a 16‐year‐old girl.

3. Methods

We considered keratosis rubra pilaris, lipoid proteinosis, scleromyxedema, Darier disease, and colloid milium as differential clinical diagnoses.

Investigations showed a high erythrocyte sedimentation rate of 24, while serum electrolytes, liver, kidney, and thyroid function tests were normal (Table 1). Serum protein electrophoresis revealed an increased gamma chain, and random urine electrophoresis showed albuminuria. ANA and other rheumatologic markers were within the normal range. Abdominal ultrasound and echocardiography findings were normal.

TABLE 1.

Laboratory data.

	Parameter	Result	Normal range
CBC	WBC	8.9	4.0–10.0 103/μL
	RBC	3.79	3.8–5.1 106/μL
	Hemoglobin	11.6	11.5–16.5 g/dL
	Hematocrit	34.8	40%–54%
	MCV	91.8	80–96 fl
	MCH	30.5	27–32 pg.
	MCHC	33.3	32–36 g/dL
	Platelets	266	150–450 103/μL
	RDW	14.0	11%–16%
Biochemistry	FBS	74	70–99 mg/dL
	Triglycerides	108	40–150 mg/dL
	Cholesterol	123 (↓)	150–200 mg/dL
	HDL	47	35–70 mg/dL
	LDL	70	30–155 mg/dL
	BUN	11	6–23 mg/dL
	Creatinine	0.8	0.7–1.4 mg/dL
	Uric acid	4.1	3–6 mg/dL
	Albumin	3.8	3.5–5.3 g/dL
	Alkaline phosphatase	303	1–720 U/L
	(25‐OH) Vitamin D	32.3	30–100 ng/mL (sufficient)
	Ig E	16.7	0–188 lu/mL
	Ig A	1.65	0.86–3.2
	ESR	24 (↑)	0–20 mm/h
Urine	Color	Yellow	Normal
	Appearance	Clear	Normal
	Specific gravity	1.023	Normal (1.005–1.030)
	Urine pH	Acidic	Normal (\~4.5–8)
	Albumin	Negative	Normal
	Glucose	Negative	Normal
	Ketones	Negative	Normal
	Blood	Negative	Normal
	Bilirubin	Negative	Normal
	RBC in urine	1–2/hpf	Normal
	WBC in urine	10–15/hpf	May indicate mild inflammation
	Epithelial cells	20–25/lpf	Slightly elevated
	Mucus threads	Moderate	Occasionally seen

Abbreviations: ESR, erythrocyte sedimentation rate; FBS, fasting blood sugar; MCH, mean corpuscular hemoglobin; MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume; RBC, red blood cells; RDW, red cell distribution width; WBC, white blood cells.

An excisional biopsy was done on papular lesions. A consent form was obtained from the patient. The biopsy revealed hyperkeratosis, mild acanthosis, and slight papillomatosis, with an intact basal layer within the epidermis. The papillary dermis showed focal interstitial aggregation of lymphocytes and giant cells. The upper and deep dermis showed mild perivascular infiltration of lymphocytes and few plasma cells, mild dermal fibrosis, and mild interstitial mucin deposition. Colloidal iron staining showed mild interstitial mucin deposition. Elastic staining showed fragmentation and reduction of elastic fibers (Figures 2, 3, 4).

FIGURE 2.

(A and B) The dermis shows increased fibroblasts, collagen bundles, and interstitial mucin deposition (black arrow), atrophy of pilosebaceous follicles (red arrows), and sparse perivascular infiltrate of lymphocytes (blue arrow). H&E‐ 40× (A) and 200× (B).

FIGURE 3.

(A and B) There is a large amount of interstitial mucin deposition. Colloidal iron (blue arrows)—40× (A) and 200× (B).

FIGURE 4.

Elastic tissue stains show fragmentation and reduction of elastic fibers. Elastic staining—200×.

4. Conclusion and Results

The clinical and pathologic findings were consistent with the diagnosis of scleromyxedema. She was treated with rituximab (Zytux) 1 g every two weeks for a total dose of 2 g. Two weeks later, she received 2 g/kg IVIG followed by isotretinoin 20 mg/day, and relative improvement was achieved. The hematologist and rheumatologist visited the patient and recommended that no more treatment was needed.

5. Discussion

Scleromyxedema, also termed Arndt‐Gottron syndrome or generalized lichen myxedematosus, is a rare, chronic, and progressive cutaneous mucinosis of uncertain etiology. It most commonly presents in middle‐aged adults, though exceptions exist [1]. Clinically, it manifests with waxy papules, which may be asymptomatic or associated with intense pruritus. As the disease progresses, the skin may become indurated, resulting in reduced joint mobility and sclerodactyly. Characteristically, the scalp and mucosal surfaces remain uninvolved, and progressive thickening of the dermis beneath the papules may contribute to a leonine facies due to accentuation of skin folds [2].

A hallmark of classic scleromyxedema is its association with monoclonal gammopathy, most often involving IgG with lambda light chains, seen in approximately 80% of patients. In cases where paraproteinemia is initially absent, ongoing surveillance is warranted, as it may emerge later in the disease course. The paraprotein may either stimulate fibroblasts to produce excess mucin and prostaglandin E or reflect an immune response targeting mucin‐rich dermis [1, 3].

Multisystemic involvement is frequent and may affect the musculoskeletal, neurologic, cardiovascular, pulmonary, and renal systems. In a systematic review encompassing 185 patients, the average age of onset was 52 years, and the male‐to‐female ratio was slightly higher than 1:1. Nearly three‐quarters had an associated monoclonal gammopathy, and 45% exhibited extracutaneous features [4]. In contrast, the patient presented here is an adolescent female, a highly uncommon demographic, who lacked systemic manifestations or laboratory evidence of gammopathy, further highlighting the heterogeneity of this disorder.

Histologically, the condition is marked by a triad of dermal mucin deposition, fibroblast proliferation, and collagen expansion. The mucin appears as interstitial basophilic material within the reticular dermis and stains positively with colloidal iron or Alcian blue. Fibroblasts may appear increased in number and irregular in shape, with perivascular lymphocytic infiltrates and multinucleated giant cells, as observed in this case. Fragmentation and loss of elastic fibers may also be present [5].

There is currently no universally accepted treatment algorithm for scleromyxedema, and therapeutic strategies are primarily guided by disease severity and systemic involvement. Historically used interventions include alkylating agents (e.g., melphalan, cyclophosphamide), corticosteroids, interferon‐alpha, thalidomide, oral retinoids, methotrexate, and plasmapheresis. More recently, biologics and targeted therapies such as intravenous immunoglobulin (IVIG), bortezomib, lenalidomide, and autologous stem cell transplantation have shown efficacy in refractory or systemic cases [3, 5, 6, 7, 8, 9, 10].

Cytotoxic agents such as melphalan have largely fallen out of favor because of serious adverse effects, including secondary hematologic malignancies [5, 6]. Instead, IVIG has emerged as a favored treatment due to its relatively favorable safety profile and efficacy in controlling both cutaneous and systemic symptoms. Multiple reports support its use at a dose of 2 g/kg administered monthly for several months [6, 7, 8, 9, 10].

Reports of successful combination regimens include IVIG and corticosteroids [11], IVIG with methotrexate and steroids [12], bortezomib plus dexamethasone [13], lenalidomide combined with IVIG [14], triple therapy with bortezomib, lenalidomide, and steroids [15], autologous peripheral stem cell transplantation followed by IVIG, thalidomide, and bortezomib [16].

In our case, a single course of IVIG (2 g/kg) was administered alongside a two‐time dose of rituximab (1 g). The use of rituximab in scleromyxedema has been primarily reported in refractory or systemic cases, particularly in conjunction with other immunomodulatory agents such as lenalidomide or thalidomide [14, 15, 16]. However, its application in this patient likely reflects an attempt to modulate the immune response early in the disease course and may represent a preventive strategy, especially given the patient's young age and absence of paraproteinemia. Although there are limited data on the use of rituximab as a first‐line agent in cutaneous‐limited scleromyxedema, its mechanism of B‐cell depletion provides a rational immunologic basis for its use, particularly when long‐term disease suppression is desired.

Another noteworthy component of the treatment was low‐dose oral isotretinoin (20 mg daily), which was initiated to manage the cutaneous papules. Retinoids have been used in some cases of localized or milder forms of the disease, given their effect on epidermal differentiation and dermal remodeling [5, 6]. In this patient, isotretinoin may have provided additional benefit in controlling skin lesions without the need for more aggressive systemic immunosuppression.

Unlike many reported cases in the literature, our patient had no systemic symptoms and no detectable paraproteinemia, both of which are typically associated with more aggressive disease requiring multi‐agent therapy. Combination therapies with IVIG and corticosteroids [11], IVIG with methotrexate [12], or proteasome inhibitors like bortezomib with steroids [13, 15] have been described with favorable outcomes in such complex cases.

In contrast, the relatively mild nature of the disease in our patient, together with the lack of systemic findings, justifies a more conservative therapeutic approach. In addition to the relative improvement in skin lesions after three months, the absence of disease progression and lack of systemic symptoms suggest a favorable trajectory. Nevertheless, close clinical monitoring remains essential, as paraproteinemia or systemic involvement may develop over time in some patients initially presenting with cutaneous‐limited disease [1].

Overall, the therapeutic strategy in this case reflects a careful balance between efficacy and safety, tailored to a pediatric patient with a rare but potentially progressive disease. The combination of immunomodulatory (IVIG, rituximab) and keratinization‐modulating (isotretinoin) agents, although less conventional in mild cases, may represent a reasonable approach in young patients for whom long‐term toxicity is a major concern.

Author Contributions

Mehdi Ghahartars: conceptualization, data curation, investigation, methodology, supervision, writing – review and editing. Seyyede Zeinab Azimi: data curation, investigation, methodology, supervision, validation, writing – original draft, writing – review and editing. Mojgan Akbarzadeh Jahromi: data curation, methodology, supervision, writing – original draft, writing – review and editing. Mohammad Reza Namazi: conceptualization, data curation, investigation, methodology, supervision, validation, visualization, writing – original draft, writing – review and editing.

Consent

Written informed consent has been taken from the patient.

Conflicts of Interest

The authors declare no conflicts of interest.

Ghahartars M., Azimi S. Z., Akbarzadeh Jahromi M., and Namazi M. R., “Skin‐Colored Papules on the Face and Chest of a Female Patient,” Clinical Case Reports 13, no. 9 (2025): e70830, 10.1002/ccr3.70830.

Data Availability Statement

Data will be available as needed.