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Neurofibromatosis Type 1 With Extensive
Cutaneous Involvement: A Case Report With
Psychosocial Impact
Cicero Antonio dos Santos Filho Sr. , Esther Bastos Palitot de Brito , Joanne Elizabeth Ferraz da Costa ,
Marcos Aurelio Alves Barbosa Sobrinho , Jose Walderez Carvalho da Silva 
1. DERMATOLOGIA, Universidade Federal da Paraiba - UFPB, JOÃO PESSOA - PB, BRA 2. Dermatologia, Universidade
Federal da Paraiba - UFPB, João Pessoa - PB, BRA 3. Dermatologia, Universidade Federal da Paraiba - UFPB, João
Pessoa -PB, BRA 4. Dermatology, Universidade Federal da Paraiba - UFPB, João Pessoa -PB, BRA
Corresponding author: Cicero Antonio dos Santos Filho Sr., cicero_santos_@hotmail.com
Abstract
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genodermatosis characterized by variable
expressivity. The hallmark clinical features include café-au-lait macules (CALMs), cutaneous neurofibromas,
axillary/inguinal freckling, Lisch nodules, and optic pathway gliomas. We report the case of a 37-year-old
woman with NF1 and disfiguring cutaneous involvement that significantly impacted her quality of life. The
Dermatology Life Quality Index (DLQI) initially measured 27. Multidisciplinary management, including
surgical lesion removal, neurology, ophthalmology, and psychological support, led to a reduction of the
DLQI to 5. This case emphasizes the need for psychosocial consideration in managing patients with
extensive dermatological manifestations of NF1.
Categories: Plastic Surgery, Dermatology, Medical Education
Keywords: dermatology case report dlqi (dermatology life quality index), psychosocial impact, café-au-lait macules,
cutaneous neurofibromas, neurofibromatosis type 1
Introduction
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting approximately 1 in 3,000
individuals [1]. Mutations in the NF1 gene on chromosome 17q11.2 lead to the loss of neurofibromin, a
tumor suppressor protein [2]. Revised diagnostic criteria published in 2021 incorporate genetic testing and
imaging findings alongside classic clinical features such as café-au-lait macules, neurofibromas, freckling,
Lisch nodules, and optic gliomas [3]. The disease presents with variable expressivity and carries significant
psychosocial burden [4,5].
Case Presentation
A 37-year-old woman (Fitzpatrick phototype IV) from Conceição, Paraíba, Brazil, presented with extensive
cutaneous lesions and a prior diagnosis of neurofibromatosis type 1 (NF1) made during childhood by a
neurologist and a dermatologist. Her initial symptoms included seizure episodes, followed by the
appearance of hypopigmented macules that later evolved into hyperpigmented café-au-lait spots and
cutaneous tumors. She also reported learning difficulties and blurred vision.
Physical examination revealed the following findings:
Multiple café-au-lait macules (>6 lesions, each >1.5 cm)
Axillary freckling (Crowe sign)
Numerous cutaneous neurofibromas distributed over the trunk, limbs, and axillary regions
Angiofibromas
DLQI (Dermatology Life Quality Index) score: 27 [5]
These findings are consistent with the NIH diagnostic criteria for NF1, with cutaneous neurofibromas and
café-au-lait macules among the most frequent clinical manifestations [2].
Ophthalmologic examination revealed multiple retinal hamartomas and bilateral pterygium. There was no
known family history or parental consanguinity. Genetic testing was requested but not yet performed. The
patient was receiving neurological care for seizure management (carbamazepine), although dermatologic
follow-up had been irregular.
1 2 3
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 Open Access Case Report
How to cite this article
https://www.cureus.com/users/1044952-cicero-antonio-dos-santos-filho-sr-
https://www.cureus.com/users/1044994-esther-bastos-palitot-de-brito
https://www.cureus.com/users/1044996-joanne-elizabeth-ferraz-da-costa
https://www.cureus.com/users/1045001-marcos-aurelio-alves-barbosa-sobrinho
https://www.cureus.com/users/1045002-jose-walderez-carvalho-da-silva
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A multidisciplinary care approach was initiated, including surgical excision of lesions, neurological and
ophthalmologic evaluations, occupational therapy, and psychological support. After three months of follow-
up, the patient’s DLQI improved significantly to 5.
Discussion
This case illustrates the severe cutaneous burden and psychosocial consequences of NF1. Although
cutaneous lesions are often perceived as cosmetic, they can lead to emotional distress, social isolation, and a
reduced quality of life [5]. The DLQI score of 27 in this patient represents a very significant impact on her
daily activities.
NF1 is frequently diagnosed in childhood through clinical criteria, with nearly 50% of cases resulting from a
de novo mutation [3]. In this case, the absence of family history supports that possibility. The revised 2021
diagnostic criteria aim to improve early recognition, particularly in pediatric and atypical presentations [1].
Management of NF1 is challenging due to its variable expressivity. A multidisciplinary approach-including
neurology, ophthalmology, dermatology, and psychology-has demonstrated benefits in symptom control
and improvement of psychosocial outcomes [2,4]. This case reinforces the importance of addressing not only
the physical manifestations of NF1 but also the psychological and social dimensions of the disease.
Conclusions
A neurofibromatose tipo 1 com manifestações extensas pode melhorar significativamente o bem-estar do
paciente. Uma abordagem multidisciplinar e centrada no paciente é essencial, especialmente em casos com
impacto psicossocial. Ferramentas diagnósticas atualizadas e atenção à qualidade de vida são elementos-
chave para melhorar os resultados de pacientes com NF1.
Additional Information
Disclosures
Human subjects: Consent for treatment and open access publication was obtained or waived by all
participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all
authors declare the following: Payment/services info: All authors have declared that no financial support
was received from any organization for the submitted work. Financial relationships: All authors have
declared that they have no financial relationships at present or within the previous three years with any
organizations that might have an interest in the submitted work. Other relationships: All authors have
declared that there are no other relationships or activities that could appear to have influenced the
submitted work.
References
1. Friedman JM: Epidemiology of neurofibromatosis type 1 . Am J Med Genet. 1999, 89:1-6.
10.1002/(SICI)1096-8628(19990326)89:13.0.CO;2-9
2. Gutmann DH, Ferner RE, Listernick R, et al.: Neurofibromatosis type 1. Nat Rev Dis Primers. 2017, 3:17004.
10.1038/nrdp.2017.4
3. Legius E, Messiaen L, Wolkenstein P, et al.: Revised diagnostic criteria for neurofibromatosis type 1 and
Legius syndrome. Genet Med. 2021, 23:1506-1513. 10.1038/s41436-021-01168-5
4. Ferner RE, Huson SM, Thomas N, et al.: Neurofibromatosis. 21:340-351. 10.1016/S1474-4422(07)70075-3
5. Tonsgard JH: Clinical manifestations and management of NF1. Semin Pediatr Neurol. 2006, 13:2-7.
10.1016/j.spen.2006.01.003
 
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	Neurofibromatosis Type 1 With Extensive Cutaneous Involvement: A Case Report With Psychosocial Impact
	Abstract
	Introduction
	Case Presentation
	Discussion
	Conclusions
	Additional Information
	Disclosures
	References