Cutaneous Manifestations of Systemic Diseases in Children
Autoimmune/Rheumatologic Diseases
Juvenile Dermatomyositis
Typical age: 5-14 years
- Gottron's papules over MCP/PIP joints
- Heliotrope rash of eyelids
- Periungual erythema and telangiectasia
- Malar erythema
- Photosensitive rash
Red flag: Rapid progression requires immediate intervention
Systemic Lupus Erythematosus (SLE)
Peak onset: Early adolescence
- Classic butterfly (malar) rash
- Discoid lesions
- Photosensitivity
- Oral ulcers
- Raynaud's phenomenon
- Cutaneous vasculitis
Henoch-Schönlein Purpura (IgA Vasculitis)
Common age: 4-7 years
- Palpable purpura (lower extremities/buttocks)
- Petechiae
- Urticarial wheals
- Angioedema
Endocrine Disorders
Type 1 Diabetes Mellitus
- Necrobiosis lipoidica diabeticorum
- Diabetic dermopathy
- Acanthosis nigricans
- Xerosis
- Delayed wound healing
Hyperthyroidism
- Warm, moist skin
- Palmar erythema
- Hyperpigmentation
- Pretibial myxedema
- Onycholysis
Hypothyroidism
- Cool, dry, rough skin
- Myxedema
- Carotenemia
- Sparse, brittle hair
- Delayed wound healing
Genetic/Metabolic Disorders
Tuberous Sclerosis
Present from birth or early infancy
- Ash leaf macules (hypopigmented)
- Angiofibromas
- Shagreen patches
- Periungual fibromas
- Café-au-lait macules
Neurofibromatosis Type 1
- Café-au-lait macules (≥6)
- Axillary/inguinal freckling
- Neurofibromas
- Plexiform neurofibromas
- Juvenile xanthogranulomas
Nutritional Disorders
Zinc Deficiency
- Acrodermatitis enteropathica
- Periorificial dermatitis
- Angular cheilitis
- Alopecia
- Paronychia
Vitamin C Deficiency (Scurvy)
- Perifollicular hemorrhages
- Corkscrew hairs
- Gingivitis
- Poor wound healing
- Purpura
Infectious Diseases
Kawasaki Disease
Typical age: <5 years
- Polymorphous exanthem
- Lip changes (red, cracked)
- Strawberry tongue
- Palm/sole erythema
- Periungual desquamation
Requires urgent evaluation and treatment
Acute Rheumatic Fever
- Erythema marginatum
- Subcutaneous nodules
- Petechiae
- Rheumatic nodules
Gastrointestinal Disorders
Inflammatory Bowel Disease
- Erythema nodosum
- Pyoderma gangrenosum
- Sweet's syndrome
- Oral aphthous ulcers
- Cutaneous granulomas
Celiac Disease
- Dermatitis herpetiformis
- Xerosis
- Angular cheilitis
- Pallor
- Easy bruising
Hematologic Disorders
Sickle Cell Disease
Present from early childhood
- Leg ulcers
- Pallor
- Jaundice
- Dactylitis
- Cold-induced painful acrocyanosis
Langerhans Cell Histiocytosis
- Seborrheic-like eruption
- Petechiae/purpura
- Erosive scalp lesions
- Violaceous papules
- Ulcerative lesions
Iron Deficiency Anemia
- Pallor of skin and mucous membranes
- Koilonychia
- Angular cheilitis
- Hair changes (telogen effluvium)
- Blue sclerae
Hepatobiliary Diseases
Biliary Atresia
Presents in neonatal period
- Jaundice
- Xanthomas
- Spider angiomas
- Pruritus with excoriations
- Carotenemia
Chronic Liver Disease
- Palmar erythema
- Terry's nails
- Spider angiomas
- Caput medusae
- Jaundice
Wilson's Disease
- Kayser-Fleischer rings
- Azure lunulae
- Spider angiomas
- Hyperpigmentation
- Easy bruising
Oncologic Conditions
Acute Lymphoblastic Leukemia
- Petechiae/purpura
- Pallor
- Leukemia cutis
- Gingival hyperplasia
- Sweet's syndrome
Requires immediate evaluation if suspected
Neuroblastoma
- "Blueberry muffin" lesions
- Periorbital ecchymoses
- Opsoclonus-myoclonus associated rash
- Flushing
- Subcutaneous nodules
Cutaneous T-Cell Lymphoma
- Mycosis fungoides patches
- Hypopigmented patches
- Poikiloderma
- Erythroderma
- Leonine facies in advanced cases
Primary Immunodeficiencies
Chronic Granulomatous Disease
- Suppurative lymphadenitis
- Perianal abscesses
- Granulomatous skin lesions
- Poor wound healing
- Bacterial skin infections
Wiskott-Aldrich Syndrome
- Atopic dermatitis-like rash
- Petechiae/purpura
- Milk allergy manifestations
- Recurrent infections
- Bloody diarrhea
Severe Combined Immunodeficiency (SCID)
Present in early infancy
- Severe infections with unusual organisms
- Persistent candidiasis
- Chronic diarrhea with skin manifestations
- BCG infection site complications
- Failure to thrive
Medical emergency requiring immediate intervention
Psychiatric/Neurologic Disorders
Autism Spectrum Disorders
- Self-inflicted skin lesions
- Neurocutaneous markers
- Tactile defensiveness manifestations
- Decreased pain response
- Altered sweating patterns
Tourette Syndrome
- Excoriations from tics
- Calluses from repetitive movements
- Self-induced trauma
- Trichotillomania-associated changes
- Nail-biting related changes
Pediatric Acute-onset Neuropsychiatric Syndrome (PANS)
- Sudden onset skin picking
- Excoriations
- Compulsive grooming injuries
- Associated streptococcal rash
- Urticarial lesions
Renal Diseases
Nephrotic Syndrome
- Periorbital edema
- Striae from rapid edema
- Anasarca
- Pallor
- Xerosis with associated pruritus
Chronic Kidney Disease
- Uremic frost
- Half-and-half nails
- Calciphylaxis
- Pruritus with excoriations
- Hyperpigmentation
Alport Syndrome
- Lentiginosis
- Leukonychia
- Angular cheilitis
- Hair abnormalities
- Periungual telangiectasias
Cardiovascular Disorders
Congenital Heart Disease
- Central cyanosis
- Clubbing of digits
- Peripheral edema
- Mottling of skin
- Poor peripheral perfusion signs
Endocarditis
- Osler's nodes
- Janeway lesions
- Splinter hemorrhages
- Petechiae
- Conjunctival hemorrhages
Requires urgent evaluation and treatment
Vasculitis Syndromes
- Livedo reticularis
- Raynaud's phenomenon
- Cutaneous nodules
- Digital ulcers
- Retiform purpura
Respiratory Conditions
Cystic Fibrosis
- Salty-tasting skin
- Digital clubbing
- Aquagenic palmar wrinkling
- Nasal polyps
- Elastosis perforans serpiginosa
Primary Ciliary Dyskinesia
- Chronic sinusitis manifestations
- Nasal polyps
- Situs inversus associated findings
- Bronchiectasis-related changes
- Recurrent skin infections
Allergic Bronchopulmonary Aspergillosis
- Cutaneous aspergillosis
- Atopic dermatitis
- Urticaria
- Angioedema
- Vasculitic lesions
Storage Diseases
Gaucher Disease
- Yellowish-brown skin pigmentation
- Petechiae
- Easy bruising
- Cutaneous xanthomas
- Pingueculae
Niemann-Pick Disease
- Cherry-red macular spots
- Xanthomas
- Café-au-lait macules
- Acanthosis nigricans
- Hyperpigmentation
Fabry Disease
- Angiokeratomas
- Hypohidrosis
- Telangiectasias
- Raynaud's phenomenon
- Corneal opacities
Chromosomal Disorders
Down Syndrome
- Palmoplantar hyperkeratosis
- Xerosis
- Elastosis perforans serpiginosa
- Syringomas
- Cutis marmorata
Turner Syndrome
- Multiple pigmented nevi
- Keloid formation
- Lymphedema
- Cutis laxa
- Webbed neck
Klinefelter Syndrome
- Leg ulcers
- Varicose veins
- Trophic changes
- Hyperpigmentation
- Sparse body hair
Mitochondrial Diseases
MELAS Syndrome
Variable age of onset
- Stroke-like lesions with skin changes
- Lipomatosis
- Hyperhidrosis
- Ragged-red fiber-associated changes
- Cutaneous vasculopathy
Leigh Syndrome
- Hypotonia-related skin changes
- Pressure ulcers
- Trophic changes
- Poor wound healing
- Cutis marmorata
Pearson Syndrome
- Pallor
- Petechiae
- Ecchymoses
- Sparse hair
- Pancreatic insufficiency-related changes
Bone Disorders
Osteogenesis Imperfecta
- Blue sclerae
- Easy bruising
- Thin, translucent skin
- Joint hypermobility
- Cutis laxa
Rickets
- Craniotabes
- Excessive sweating
- Alopecia
- Poor wound healing
- Pressure-related skin changes
Hypophosphatasia
- Premature loss of deciduous teeth
- Eczematous changes
- Poor wound healing
- Pressure ulcers
- Skin fragility
Growth Disorders
Growth Hormone Deficiency
- Fine wrinkles
- Thin skin
- Sparse hair
- Delayed wound healing
- Immature facial features
Beckwith-Wiedemann Syndrome
- Hemihyperplasia
- Facial nevus flammeus
- Ear creases/pits
- Abdominal wall defects
- Umbilical hernia
Russell-Silver Syndrome
- Café-au-lait spots
- Body asymmetry
- Thin skin
- Clinodactyly
- Hyperhidrosis
Environmental Conditions
Heat-Related Disorders
- Miliaria
- Heat rash
- Hyperhidrosis
- Intertrigo
- Sunburn
Cold-Related Injuries
- Frostbite
- Pernio (chilblains)
- Cold urticaria
- Acrocyanosis
- Raynaud's phenomenon
Altitude-Related Changes
- High-altitude purpura
- UV-related changes
- Xerosis
- Chapping
- Altitude-related edema
Psychiatric Manifestations
Trichotillomania
- Patchy alopecia
- Broken hairs
- Excoriations
- Trichoptilosis
- Associated scarring
Dermatillomania (Skin Picking Disorder)
- Excoriations
- Scarring
- Post-inflammatory hyperpigmentation
- Prurigo nodularis-like lesions
- Secondary infections
Factitious Disorder
- Self-induced lesions
- Unusual patterns of injury
- Non-healing wounds
- Geometric shapes
- Burns/chemical injuries
Requires careful psychiatric evaluation
Neurocutaneous Syndromes
Sturge-Weber Syndrome
Present at birth
- Port-wine stain (facial)
- Leptomeningeal angiomas
- Glaucoma-associated changes
- Soft tissue hypertrophy
- Gingival hyperplasia
PHACE Syndrome
- Large facial hemangiomas
- Posterior fossa anomalies
- Arterial lesions
- Cardiac defects with cutaneous signs
- Eye abnormalities
Hypomelanosis of Ito
- Hypopigmented whorls
- Streaks following Blaschko's lines
- Associated nevus marmorata
- Café-au-lait macules
- Angiomatous nevi
Histiocytic Disorders
Juvenile Xanthogranuloma
- Yellow-orange papules/nodules
- Spontaneous involution
- Multiple lesions
- Associated internal manifestations
- Café-au-lait macules
Hemophagocytic Lymphohistiocytosis
- Maculopapular rash
- Petechiae
- Purpura
- Erythroderma
- Edema
Medical emergency requiring immediate treatment
Rosai-Dorfman Disease
- Xanthomatous papules
- Nodules
- Infiltrated plaques
- Soft tissue masses
- Associated lymphadenopathy
Congenital Metabolic Disorders
Phenylketonuria
- Fair skin/hair/eyes
- Eczematous rash
- Photosensitivity
- Sclerodermatous changes
- Hypopigmentation
Homocystinuria
- Malar flush
- Livedo reticularis
- Fair complexion
- Brittle hair
- Thromboembolic skin changes
Methylmalonic Acidemia
- Acrodermatitis enteropathica-like rash
- Periorificial dermatitis
- Hair changes
- Pallor
- Cutaneous infections
DNA Repair Disorders
Xeroderma Pigmentosum
- Severe photosensitivity
- Freckling in sun-exposed areas
- Premalignant lesions
- Skin cancers
- Telangiectasias
Requires strict UV protection
Cockayne Syndrome
- Photosensitivity
- Deep-set eyes
- Premature aging
- Thin, dry skin
- Pigmentary changes
Rothmund-Thomson Syndrome
- Poikiloderma
- Photosensitivity
- Sparse hair/eyebrows/eyelashes
- Juvenile cataracts
- Skeletal abnormalities
Hair Abnormalities Syndromes
Uncombable Hair Syndrome
- Silvery-blond hair
- Unmanageable, spun-glass hair
- Triangle-shaped hair shaft
- Associated ectodermal features
- Nail abnormalities
Menkes Disease
- Kinky, steel wool-like hair
- Hypopigmentation
- Cutis laxa
- Tortuous vessels
- Temperature instability
Netherton Syndrome
- Trichorrhexis invaginata
- Ichthyosis linearis circumflexa
- Atopic manifestations
- Bamboo hair
- Erythroderma
Disclaimer
The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.
